bluuebunny/crossref_metadata_2025_split huggingface dataset:
RFC1 expansions are a common cause of idiopathic sensory neuropathy
Authors: Currò Riccardo , Salvalaggio Alessandro , Tozza Stefano , Gemelli Chiara , Dominik Natalia , Galassi Deforie Valentina , Magrinelli Francesca , Castellani Francesca , Vegezzi Elisa , Businaro Pietro , Callegari Ilaria , Pichiecchio Anna , Cosentino Giuseppe , Alfonsi Enrico , Marchioni Enrico , Colnaghi Silvia , Gana Simone , Valente Enza Maria , Tassorelli Cristina , Efthymiou Stephanie , Facchini Stefano , Carr Aisling , Laura Matilde , Rossor Alexander M , Manji Hadi , Lunn Michael P , Pegoraro Elena , Santoro Lucio , Grandis Marina , Bellone Emilia , Beauchamp Nicholas J , Hadjivassiliou Marios , Kaski Diego , Bronstein Adolfo M , Houlden Henry , Reilly Mary M , Mandich Paola , Schenone Angelo , Manganelli Fiore , Briani Chiara , Cortese Andrea 
Published: March 2021

Abstract
After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin. Since a sensory neuropathy/neuronopathy is identified in all patients with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that RFC1 expansions could underlie a fraction of idiopathic sensory neuropathies also diagnosed as chronic idiopathic axonal polyneuropathy. We retrospectively identified 225 patients diagnosed with chronic idiopathic axonal polyneuropathy (125 sensory neuropathy, 100 sensory-motor neuropathy) from our general neuropathy clinics in Italy and the UK. All patients underwent full neurological evaluation and a blood sample was collected for RFC1 testing. Biallelic RFC1 expansions were identified in 43 patients (34%) with sensory neuropathy and in none with sensory-motor neuropathy. Forty-two per cent of RFC1-positive patients had isolated sensory neuropathy or sensory neuropathy with chronic cough, while vestibular and/or cerebellar involvement, often subclinical, were identified at examination in 58%. Although the sensory ganglia are the primary pathological target of the disease, the sensory impairment was typically worse distally and symmetric, while gait and limb ataxia were absent in two-thirds of the cases. Sensory amplitudes were either globally absent (26%) or reduced in a length-dependent (30%) or non-length dependent pattern (44%). A quarter of RFC1-positive patients had previously received an alternative diagnosis, including Sjögren’s syndrome, sensory chronic inflammatory demyelinating polyneuropathy and paraneoplastic neuropathy, while three cases had been treated with immune therapies.
Ethnic differences in excretion of butadiene–DNA adducts by current smokers
Authors: Jokipii Krueger Caitlin C , Park S Lani , Madugundu Guru , Patel Yesha , Le Marchand Loic , Stram Daniel O , Tretyakova Natalia 
Published: March 2021

Abstract
1,3-Butadiene (BD) is a known human carcinogen used in the synthetic polymer industry and also found in cigarette smoke, automobile exhaust and wood burning smoke. BD is metabolically activated by cytochrome P450 monooxygenases (CYP) 2E1 and 2A6 to 3,4-epoxy-1-butene (EB), which can be detoxified by GST-catalyzed glutathione conjugation or hydrolysis. We have previously observed ethnic differences in urinary levels of EB–mercapturic acids in white, Japanese American and Native Hawaiian smokers. In the present study, similar analyses were extended to urinary BD–DNA adducts. BD-induced N7-(1-hydroxy-3-buten-2-yl) guanine (EB–GII) adducts were quantified in urine samples obtained from smokers and non-smokers belonging to three racial/ethnic groups: white, Japanese American and Native Hawaiian. After adjusting for sex, age, nicotine equivalents, body mass index and batch, we found that Japanese American smokers excreted significantly higher amounts of urinary EB–GII than whites [1.45 (95% confidence interval: 1.12–1.87) versus 0.68 (95% confidence interval: 0.52–0.85) fmol/ml urine, P = 4 × 10−5]. Levels of urinary EB–GII in Native Hawaiian smokers were not different from those in whites [0.67 (95% confidence interval: 0.51–0.84) fmol/ml urine, P = 0.938]. There were no racial/ethnic differences in urinary EB–GII adduct levels in non-smokers. Racial/ethnic differences in urinary EB–GII adduct levels in smokers could not be explained by GSTT1 gene deletion or CYP2A6 enzymatic activity. Urinary EB–GII adduct levels in smokers were significantly associated with concentrations of BD metabolite dihyroxybutyl mercapturic acid. Overall, our results reveal that urinary EB–GII adducts in smokers differ across racial/ethnic groups. Future studies are required to understand genetic and epigenetic factors that may be responsible for these differences.
Association of Intensity of Antipseudomonal Antibiotic Therapy With Risk of Treatment-Emergent Organisms in Children With Cystic Fibrosis and Newly Acquired Pseudomonas Aeruginosa
Authors: Cogen Jonathan D , Onchiri Frankline M , Hamblett Nicole Mayer , Gibson Ronald L , Morgan Wayne J , Rosenfeld Margaret 
Published: March 2021

Abstract

Background
While Pseudomonas aeruginosa (Pa) eradication regimens have contributed to a decline in Pa prevalence in people with cystic fibrosis (CF), this antibiotic exposure might increase the risk of acquisition of drug-resistant organisms. This study evaluated the association between antipseudomonal antibiotic exposure intensity and acquisition risk of drug-resistant organisms among children with CF and new Pa infection.

Methods
We utilized data from the Early Pseudomonas Infection Control Clinical Trial (EPIC CT), a randomized controlled trial comparing Pa eradication strategies in children with CF and new Pa. The exposure was the number of weeks of oral or inhaled antipseudomonal antibiotics or ever versus never treatment with intravenous antipseudomonal antibiotics during the 18 months of EPIC CT participation. Primary outcomes were risks of acquisition of several respiratory organisms during 5 years of follow-up after EPIC CT estimated using Cox proportional hazards models separately for each specific organism.

Results
Among 249 participants, there was no increased acquisition risk of any organism associated with greater inhaled antibiotic exposure. With each additional week of oral antibiotics, there was an increased hazard of Achromobacter xylosoxidans acquisition (HR, 1.24; 95% CI: 1.02–1.50; P = .03). Treatment with intravenous antibiotics was associated with an increased hazard of acquisition of multidrug-resistant Pa (HR, 2.47; 95% CI: 1.28–4.78; P = .01) and MRSA (HR, 1.57; 95% CI: 1.03–2.40; P = .04).

Conclusions
Results from this study illustrate the importance of making careful antibiotic choices to balance the benefits of antibiotics in people with CF while minimizing risk of acquisition of drug-resistant organisms.
Echocardiographic guidance for HARPOON beating-heart mitral valve repair
Authors: Gackowski Andrzej , D'Ambra Michael N , Diprose Paul , Szymański Piotr , Duncan Alison , Bartus Krzysztof , Gammie James S 
Published: March 2021

Abstract
The HARPOON mitral valve (MV) repair system has been shown to safely and effectively treat a degenerative MV prolapse with transventricular implantation of artificial cords on a beating heart. The low profile system is introduced and precisely steered under 3D TEE guidance towards the previously selected target on a prolapsing MV segment. It allows puncture and deployment of a knot on the leaflet. The procedure is repeated until desired number of knots are implanted and the cords are optimally tensioned to restore coaptation. The cords are then tied down on the epicardium over a felt pledget.
State of the art echocardiographic imaging is a crucial part of the procedure. It starts from patients screening, pre-procedural analysis and planning, access selection, navigation, deployment, optimal cordal tensioning, and final MV assessment and is continued during the follow-up assessment.
This article illustrates the specific echocardiographic aspects of the HARPOON procedure including 2D and advanced 3D TEE techniques. The echocardiographic protocol was developed based on initial experience in 60 procedures. Detailed training of the echocardiographer and surgical team, is mandatory to achieve excellent results of this procedure, being now introduced in the clinical practice.
Evaluating the direct effects of childhood adiposity on adult systemic metabolism: a multivariable Mendelian randomization analysis
Authors: Richardson Tom G , Mykkänen Juha , Pahkala Katja , Ala-Korpela Mika , Bell Joshua A , Taylor Kurt , Viikari Jorma , Lehtimäki Terho , Raitakari Olli , Davey Smith George 
Published: March 2021

Abstract

Background
Individuals who are obese in childhood have an elevated risk of disease in adulthood. However, whether childhood adiposity directly impacts intermediate markers of this risk, independently of adult adiposity, is unclear. In this study, we have simultaneously evaluated the effects of childhood and adulthood body size on 123 systemic molecular biomarkers representing multiple metabolic pathways.

Methods
Two-sample Mendelian randomization (MR) was conducted to estimate the causal effect of childhood body size on a total of 123 nuclear magnetic resonance-based metabolic markers using summary genome-wide association study (GWAS) data from up to 24 925 adults. Multivariable MR was then applied to evaluate the direct effects of childhood body size on these metabolic markers whilst accounting for adult body size. Further MR analyses were undertaken to estimate the potential mediating effects of these circulating metabolites on the risk of coronary artery disease (CAD) in adulthood using a sample of 60 801 cases and 123 504 controls.

Results
Univariable analyses provided evidence that childhood body size has an effect on 42 of the 123 metabolic markers assessed (based on P &lt; 4.07 × 10−4). However, the majority of these effects (35/42) substantially attenuated when accounting for adult body size using multivariable MR. We found little evidence that the biomarkers that were potentially influenced directly by childhood body size (leucine, isoleucine and tyrosine) mediate this effect onto adult disease risk. Very-low-density lipoprotein markers provided the strongest evidence of mediating the long-term effect of adiposity on CAD risk.

Conclusions
Our findings suggest that childhood adiposity predominantly exerts its detrimental effect on adult systemic metabolism along a pathway that involves adulthood body size.
A study of the skylight coverage ratio for air-conditioned atriumsin the hot and humid regions
Authors: Lou Siwei , Huang Yu , Xia Dawei , Lun Isaac Y F , Li Danny H W 
Published: March 2021

Abstract
The skylight on the roof of an atrium can be popular for commercial malls to illuminate the core area of the building. However, the solar radiation and its heat can get into the building together with the daylight, causing excessive cooling load. This paper studies the daylighting and energy performances of skylight coverage area for the air-conditioned atriums in the hot and humid regions. The energy performance with different atrium heights, glass types and the coverage ratios of the skylight are studied. The daylight performance was simulated by the ray-tracing Radiance and was transferred into EnergyPlus for energy evaluations. The finding suggested that, for hot and humid climates, the skylight coverage ratio should be controlled carefully to prevent the excessive solar heat gain. When the on/off lighting control is applied, the total energy consumption of the single-floor cases (or of the top floor for the multi-floor cases) leveled off when the coverage ratio of the skylight reached 9%. Thus, the skylight is favorable to the energy saving of the low-rise or single-floor commercial buildings only under the current assumptions, as the ground of the atrium cannot be well illuminated while the excessive solar radiation gets into the building. The skylight should be shaded in cooling seasons to prevent the excessive solar heat gains.
From Cattle Brand to Corporate Brand: Blue Jean Trademarks in Mid-century America
Authors: Abrego Sonya 
Published: March 2021

Abstract
Cattle brands are physical imprints of ownership applied to the flesh of animals. They were, in the nineteenth century, indispensable to ranchers for differentiating their cattle from a competitors’ stock on the open range. The branding symbol’s utility as a legible marker of property ownership declined after widespread fencing delimited the plains. Yet cattle brands remained present in vernacular visual and material culture as decorative features and motifs signifying the Old West into the twentieth century. Cattle brand imagery, largely divorced from its functional origins, was recombined and repurposed to add decorative flourish to a variety of garments, wearable accessories, and domestic objects. This article explores the persistence of cattle brands as a popular trope in mid-century America and focuses on denim jeans, manufactured by Levi Strauss & Co., and, in particular, Lee, companies that fashioned their company logos in the guise of a brand. Through material culture analysis I will examine how clothing companies employed cattle brand iconography in advertising, promotions, and product design to consider a historical moment in the cattle brand’s semiotic shift from indexical trace of property ownership to corporate brand logo.
Retroperitoneal ganglioneuroma presenting as an obstructive pyelonephritis: a case report
Authors: Kora Christine , Oulad Amar Asmae , El Arabi Soumia , Rockson Obed , Nasri Siham , Skiker Imane 
Published: March 2021

Abstract
Ganglioneuroma is a nerve tumor arising from the sympathetic neural crest. It is a rare benign tumor. Retroperitoneum is its second location after the posterior mediastinum. Usually asymptomatic, it is discovered incidentally on imaging. Surgical resection is the sole treatment. The prognosis is good if the diagnosis is made early with quality R0 surgical excision. We report a case in a 14-year-old female admitted to the emergency department for obstructive pyelonephritis. Imaging features found a retroperitoneal mass with characteristics suggestive of a retroperitoneal ganglioneuroma, which was confirmed by histological study. Ganglioneuroma should be a part of differential diagnoses for any retroperitoneal mass in children and young adults.
Mechanisms of damage tolerance and repair during DNA replication
Authors: Ashour Mohamed Elsaid , Mosammaparast Nima 
Published: March 2021

Abstract
Accurate duplication of chromosomal DNA is essential for the transmission of genetic information. The DNA replication fork encounters template lesions, physical barriers, transcriptional machinery, and topological barriers that challenge the faithful completion of the replication process. The flexibility of replisomes coupled with tolerance and repair mechanisms counteract these replication fork obstacles. The cell possesses several universal mechanisms that may be activated in response to various replication fork impediments, but it has also evolved ways to counter specific obstacles. In this review, we will discuss these general and specific strategies to counteract different forms of replication associated damage to maintain genomic stability.
Solubility of Monazite–Cheralite and Xenotime in Granitic Melts, and Experimental Evidence of Liquid–Liquid Immiscibility in Concentrating REE
Authors: Van Lichtervelde Marieke , Goncalves Philippe , Eglinger Aurélien , Colin Aurélia , Montel Jean-Marc , Dacheux Nicolas 
Published: March 2021

Abstract
We provide new experimental data on monazite, xenotime and U–Th-bearing cheralite solubility in slightly peralkaline to peraluminous granitic melts using dissolution and reverse (i.e. recrystallization after dissolution) experiments in water-saturated and flux-bearing (P + F + Li) granitic melts, at 800 °C and 200 MPa. Although a positive correlation between rare earth element (REE) solubility and melt peralkalinity is confirmed, monazite solubilities reported here are much lower than the values previously published. We suggest that the presence of elevated phosphorus concentrations in our melts depresses monazite solubility, principally because phosphorus complexes with Al and alkali, which normally depolymerize the melt through the formation of non-bridging oxygens. The new solubility data provide an explanation for the very low REE concentrations generally encountered in phosphorus-bearing peraluminous granites and pegmatites. This accounts for the compatibility of REE in peraluminous systems, as the early crystallization of REE-bearing minerals (mainly monazite and zircon) leads to progressive REE depletion during liquid differentiation. In addition, dissolution and reverse experiments on U–Th-bearing cheralite–monazite display liquid–liquid immiscibility processes in our slightly peralkaline glass. The immiscible liquid forms droplets up to 10 µm in diameter and hosts on average 35 wt% P2O5, 25–30 wt% F, 22 wt% Al2O3, 4 wt% CaO, 5 wt% Na2O, 2 wt% La2O3, and 12 wt% ThO2 + UO2. We believe that the droplets formed during the runs and may have coalesced to larger droplets during quenching. We suggest that liquid–liquid immiscibility is a possible mechanism of REE concentration in highly fluxed melts and should be considered in natural systems where REE are extremely concentrated (up to thousands of µg g–1) in magmatic rocks.
Potential of arsenic bioremediation by a cyanobacterium isolated from the Salado River in the Atacama Desert
Authors: Pérez-Portilla Pablo , Araya Juan , Gallardo Karem , Aránguiz-Acuña Adriana 
Published: March 2021

AbstractCyanobacteria and microalgae are recognized as excellent metal(loid)s-bioremediators of aquatic systems. We isolated a cyanobacterium from the Salado River in the Atacama Desert, northern Chile, which was identified as Cyanobium sp. Growth inhibition bioassays were conducted with arsenic and cadmium, and tolerance of Cyanobium to these metals was estimated. Removal of arsenic was assessed under different pH conditions and over time. We showed that the Cyanobium strain isolated from the Salado River has a greater tolerance to the arsenic and cadmium compounds than other species commonly used in metal(loid)s-bioremediation. Removal of up to 90% of arsenic was obtained in alkaline conditions, within the first 3 hours of exposure suggesting that Cyanobium sp. isolated from the Atacama Desert could be further studied with biotechnological purposes and to understand the evolutionary mechanisms of adaption to arid environments.
Gene expression evolution in pattern-triggered immunity withinArabidopsis thalianaand across Brassicaceae species
Authors: Winkelmüller Thomas M , Entila Frederickson , Anver Shajahan , Piasecka Anna , Song Baoxing , Dahms Eik , Sakakibara Hitoshi , Gan Xiangchao , Kułak Karolina , Sawikowska Aneta , Krajewski Paweł , Tsiantis Miltos , Garrido-Oter Ruben , Fukushima Kenji , Schulze-Lefert Paul , Laurent Stefan , Bednarek Paweł , Tsuda Kenichi 
Published: March 2021

AbstractPlants recognize surrounding microbes by sensing microbe-associated molecular patterns (MAMPs) to activate pattern-triggered immunity (PTI). Despite their significance for microbial control, the evolution of PTI responses remains largely uncharacterized. Here, by employing comparative transcriptomics of six Arabidopsis thaliana accessions and three additional Brassicaceae species to investigate PTI responses, we identified a set of genes that commonly respond to the MAMP flg22 and genes that exhibit species-specific expression signatures. Variation in flg22-triggered transcriptome responses across Brassicaceae species was incongruent with their phylogeny, while expression changes were strongly conserved within A. thaliana. We found the enrichment of WRKY transcription factor binding sites in the 5′-regulatory regions of conserved and species-specific responsive genes, linking the emergence of WRKY-binding sites with the evolution of gene expression patterns during PTI. Our findings advance our understanding of the evolution of the transcriptome during biotic stress.
Mapping and engineering of auxin-induced plasma membrane dissociation in BRX family proteins
Authors: Koh Samuel W H , Marhava Petra , Rana Surbhi , Graf Alina , Moret Bernard , Bassukas Alkistis E L , Zourelidou Melina , Kolb Martina , Hammes Ulrich Z , Schwechheimer Claus , Hardtke Christian S 
Published: March 2021

Abstract
Angiosperms have evolved the phloem for the long-distance transport of metabolites. The complex process of phloem development involves genes that only occur in vascular plant lineages. For example, in Arabidopsis thaliana, the BREVIS RADIX (BRX) gene is required for continuous root protophloem differentiation, together with PROTEIN KINASE ASSOCIATED WITH BRX (PAX). BRX and its BRX-LIKE (BRXL) homologs are composed of four highly conserved domains including the signature tandem BRX domains that are separated by variable spacers. Nevertheless, BRX family proteins have functionally diverged. For instance, BRXL2 can only partially replace BRX in the root protophloem. This divergence is reflected in physiologically relevant differences in protein behavior, such as auxin-induced plasma membrane dissociation of BRX, which is not observed for BRXL2. Here we dissected the differential functions of BRX family proteins using a set of amino acid substitutions and domain swaps. Our data suggest that the plasma membrane-associated tandem BRX domains are both necessary and sufficient to convey the biological outputs of BRX function and therefore constitute an important regulatory entity. Moreover, PAX target phosphosites in the linker between the two BRX domains mediate the auxin-induced plasma membrane dissociation. Engineering these sites into BRXL2 renders this modified protein auxin-responsive and thereby increases its biological activity in the root protophloem context.
The association of smoking with immunoglobulin G4–related disease: a case–control study
Authors: Wallwork Rachel , Perugino Cory A , Fu Xiaoqing , Harkness Tyler , Zhang Yuqing , Choi Hyon K , Stone John H , Wallace Zachary S 
Published: March 2021

Abstract

Objective
To evaluate the association between cigarette smoking and the odds of IgG4-related disease (IgG4-RD).

Methods
We performed a case–control study of patients with IgG4-RD compared in a 1:5 ratio with age-, race- and sex-matched controls. We included cases evaluated at the Massachusetts General Hospital, a hospital within the Mass General Brigham (MGB) System. Controls were identified from the MGB Biobank. Smoking status at the date of IgG4-RD diagnosis or corresponding index date was determined. Conditional logistic regression was used to estimate the association between cigarette smoking and the odds of having IgG4-RD.

Results
There were 234 IgG4-RD cases and 1170 controls. The mean age (59 years), sex (62% male) and race (75% white) were well balanced. IgG4-RD cases were more likely to be current smokers compared with controls [25 (11%) vs 70 (6%); odds ratio (OR) 1.79 (95% CI 1.08, 2.95)]. This association was strongest among female cases [13 (14%) vs 19 (4%);, OR 3.79 (95% CI 1.71, 8.39)] and those with retroperitoneal fibrosis [RPF; 13 (28%) vs 13 (6%);, OR 6.93 (95% CI 2.78, 17.26)] or normal IgG4 concentrations [21 (21%) vs 21 (4%); OR 6.22 (95% CI 3.09, 12.49)]. When RPF cases were excluded, there was no longer an association between current smoking and the odds of having IgG4-RD [12 (6%) vs 57 (6%); OR 0.95 (95% CI 0.49, 1.86)].

Conclusion
Being a current smoker is associated with greater odds of having IgG4-RD, especially among women and those with RPF or normal IgG4 concentrations. Current smoking is the first recognized modifiable risk factor for IgG4-RD.