bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of canine owner profile according to food choice: an online preliminary survey in France
Authors: Hoummady S. , Fantinati M. , Maso D. , Bynens A. , Banuls D. , Santos N. R. , Roche M. , Priymenko N. 
Published: May 2022

Abstract
Background
Nowadays, more people are treating dogs as family members. This reflects their increased attention towards their nutrition, with renewed interest for non-conventional diets such as Biologically Appropriate Raw Food/ Bones and Raw Food in United States (BARF) or homemade. In previous studies, owners feeding their dog non-conventional diets reported lower levels of trust in veterinary advice. The aim of the study was to identify differences in lifestyle between owners feeding dogs non-conventional diets and those feeding conventional diets (i.e., dry/wet pet food) to give further insight for improving communication between veterinarians and owners.

Results
A total of 426 surveys were usable. Fifteen percent of the participants lived in the metropole of Paris and had more than one dog (mean 1.72 dogs). Thirty-eight percent of the survey respondents stated that their dogs were fed exclusively with non-conventional diets, while 55% declared using conventional diets alone (not considering treats). The study canine population was for the most part neutered (63%) and purebred (68%). Amongst owners feeding conventional diets exclusively, 47% determined how much food to feed by consulting the feeding guidelines on the packaging, and only 28% said that the amount of food was prescribed by their veterinarian or veterinary nurse. Out of the participants feeding non-conventional diets, 65% declared that the information for formulating the recipes was gathered on the internet or in non-veterinary books. When compared with owners feeding exclusively conventional diets, those feeding non-conventional diets were living more frequently outside the metropole of Paris, had fewer children (0.23 ± 0.57 vs 0.37 ± 0.78; p = 0.03) and had more frequently other animals. They also dewormed less often their pets, walked their dog more each day (91 vs 78%; p < 0.001) and without leash for more than 6 h per week (46 vs 31%; p = 0.003).

Conclusions
This survey described differences in the habits of owners feeding dogs non-conventional diets in comparison with those feeding conventional diets. Data suggest that owners using non-conventional diets may be more attentive to the ethological needs of their dog which could be a starting point for practitioners for achieving better client-veterinarian communication.
Effect of traffic-related air pollution on cough in adults with polymorphisms in several cough-related genes
Authors: Yoon Michael , Ryu Min Hyung , Huff Ryan D. , Belvisi Maria G. , Smith Jaclyn , Carlsten Chris 
Published: May 2022

AbstractWith prevalent global air pollution, individuals with certain genetic predispositions and sensitivities are at of higher risk of developing respiratory symptoms including chronic cough. Studies to date have relied on patient-filled questionnaires in epidemiological studies to evaluate the gene-by-environment interactions. In a controlled human exposure study, we evaluated whether genetic risk score (GRS) based on cough-related single-nucleotide polymorphisms (SNPs) are associated with a cough count over 24 h post-exposure to diesel exhaust (DE), a model for traffic-related air pollution. DE is a mixture of several known air pollutants including PM2.5, CO, NO, NO2, and volatile organic compounds. Under closely observed circumstances, we determined that GRS constructed from 7 SNPs related to TRPA1, TRPV1, and NK-2R were correlated with cough count. Selection of channels were based on prior knowledge that SNPs in these channels lead to acute airway inflammation as a result of their increased sensitivity to particulate matter. We performed a linear regression analysis and found a significant, positive correlation between GRS and cough count following DE exposure (p = 0.002, R2 = 0.61) and filtered air (FA) exposure (p = 0.028, R2 = 0.37). Although that correlation was stronger for DE than for FA, we found no significant exposure-by-GRS interaction. In summary, cough-relevant GRS was associated with a higher 24 h cough count in a controlled setting, suggesting that individuals with a high GRS may be more susceptible to developing cough regardless of their exposure. The trend towards this susceptibility being more prominent in the context of traffic-related air pollution remains to be confirmed.Trial registration: ClinicalTrial.gov NCT02236039; NCT0223603. Registered on August 11, 2014, https://clinicaltrials.gov/ct2/show/NCT02236039.
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
Authors: Serra Gregorio , Felice Sofia , Antona Vincenzo , Di Pace Maria Rita , Giuffrè Mario , Piro Ettore , Corsello Giovanni 
Published: May 2022

Abstract
Background
Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose affected subjects show more severe phenotype than CFCS general population.

Case presentation
Hereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic investigations through amniocentesis. Among these, array comparative genomic hybridization (a-CGH) identified a 19p13.3 microdeletion, spanning 1.27 Mb and including MAP 2 K2 gene. Clinical features at birth (coarse face with dysmorphic features, sparse and friable hair, cutaneous vascular malformations and hyperkeratotic lesions, interventricular septal defect, and omphalocele) were compatible with CFCS diagnosis, and further postnatal genetic investigations were not considered necessary. Soon after discharge, at around 1 month of life, she was readmitted to our Neonatal Intensive Care Unit due to repeated episodes of vomiting, subtending a hypertrophic pyloric stenosis (HPS) which was promptly identified and treated.

Conclusions
Our report supports the 19p13.3 microdeletion as a contiguous gene syndrome, in which the involvement of the genes contiguous to MAP 2 K2 may modify the patients’ phenotype. It highlights how CFCS affected subjects, including those with 19p13.3 deletions, may have associated gastrointestinal defects (e.g., omphalocele and HPS), providing further data on 19p13.3 microdeletion syndrome, and a better characterization of its genomic and phenotypic features. The complex clinical picture of such patients may be worsened by additional, and even precocious, life-threatening conditions like HPS. Clinicians must consider, anticipate and/or promptly treat possible medical and surgical complications, with the aim of reducing adverse outcomes. Extensive diagnostic work-up, and early, continuous, and multidisciplinary follow-up, as well as integrated care, are necessary for the longitudinal clinical evolution of any single patient.
Increasing trend of type 1 diabetes incidence in the pediatric population of the Calabria region in 2019–2021
Authors: Passanisi Stefano , Salzano Giuseppina , Aloe Monica , Bombaci Bruno , Citriniti Felice , De Berardinis Fiorella , De Marco Rosaria , Lazzaro Nicola , Lia Maria C. , Lia Rosanna , Mammì Francesco , Stamati Filomena A. , Toscano Rosanna M. R. , Ventrici Claudia , Iafusco Dario , Lombardo Fortunato 
Published: May 2022

AbstractBackgroundAlthough type 1 diabetes (T1D) represents one of the most common chronic diseases in pediatric age, few studies on the epidemiology of T1D exist globally and the exact prevalence and incidence rates of the disease are unknown. In many countries, including Italy, national registries are missing.MethodsThis study aims to assess T1D incidence in the pediatric population of the Calabria region (southern Italy) in the period 2019–2021. The secondary objective was to describe the main demographical, clinical and immunological features of incident cases. Case ascertainment and all clinical data were assessed by retrospectively reviewing the electronic medical records of children and adolescents diagnosed with diabetes at any Pediatric Diabetes Center belonging to theRete Diabetologica Calabrese(Calabria Region Diabetes Network),from January 2019 to December 2021. The incidence of T1D was estimated for the entire region and was stratified according to age group (0–4 years, 5–9 years, and 10–14 years) and gender.Standardized incidence ratios for each province in the region were also calculated.ResultsThe crude incidence of T1D was 20.6/100,000 person/years. Incidence rates were higher among females and children aged 5–9 years. The crude incidence of T1D was higher in the province of Reggio Calabria (26.5/100,000 person-years). The provinces of Crotone, Catanzaro, and Vibo Valentia showed significantly lower standardized incidence ratios. The annual incidence in the region progressively increased by 43% during the study period.ConclusionsOur study revealed a relatively high incidence in the Calabria region. The marked increasing incidence trend over the past two years could be related to the global impact of the COVID-19 pandemic, but further long-scale population-based studies are needed to confirm these findings.
Technoeconomic evaluation of recent process improvements in production of sugar and high-value lignin co-products via two-stage Cu-catalyzed alkaline-oxidative pretreatment
Authors: Yuan Zhaoyang , Bals Bryan D. , Hegg Eric L. , Hodge David B. 
Published: May 2022

Abstract
Background
A lignocellulose-to-biofuel biorefinery process that enables multiple product streams is recognized as a promising strategy to improve the economics of this biorefinery and to accelerate technology commercialization. We recently identified an innovative pretreatment technology that enables of the production of sugars at high yields while simultaneously generating a high-quality lignin stream that has been demonstrated as both a promising renewable polyol replacement for polyurethane applications and is highly susceptible to depolymerization into monomers. This technology comprises a two-stage pretreatment approach that includes an alkaline pre-extraction followed by a metal-catalyzed alkaline-oxidative pretreatment. Our recent work demonstrated that H2O2 and O2 act synergistically as co-oxidants during the alkaline-oxidative pretreatment and could significantly reduce the pretreatment chemical input while maintaining high sugar yields (~ 95% glucose and ~ 100% xylose of initial sugar composition), high lignin yields (~ 75% of initial lignin), and improvements in lignin usage.

Results
This study considers the economic impact of these advances and provides strategies that could lead to additional economic improvements for future commercialization. The results of the technoeconomic analysis (TEA) demonstrated that adding O2 as a co-oxidant at 50 psig for the alkaline-oxidative pretreatment and reducing the raw material input reduced the minimum fuel selling price from $1.08/L to $0.85/L, assuming recoverable lignin is used as a polyol replacement. If additional lignin can be recovered and sold as more valuable monomers, the minimum fuel selling price (MFSP) can be further reduced to $0.73/L.

Conclusions
The present work demonstrated that high sugar and lignin yields combined with low raw material inputs and increasing the value of lignin could greatly increase the economic viability of a poplar-based biorefinery. Continued research on integrating sugar production with lignin valorization is thus warranted to confirm this economic potential as the technology matures.
postQTL: a QTL mapping R workflow to improve the accuracy of true positive loci identification
Authors: Bhandari Prashant , Lee Tong Geon 
Published: May 2022

AbstractObjectiveThe determination of the location of quantitative trait loci (QTL) (i.e., QTL mapping) is essential for identifying new genes. Various statistical methods are being incorporated into different QTL mapping functions. However, statistical errors and limitations may often occur in a QTL mapping, implying the risk of false positive errors and/or failing to detect a true positive QTL effect. We simulated the power to detect four simulated QTL in tomato using cim() and stepwiseqtl(), widely adopted QTL mapping functions, and QTL.gCIMapping(), a derivative of the composite interval mapping method. While there is general agreement that those three functions identified simulated QTL, missing or false positive QTL were observed, which were prevalent when more realistic data (such as smaller population size) were provided.ResultsTo address this issue, we developed postQTL, a QTL mapping R workflow that incorporates (i) both cim() and stepwiseqtl(), (ii) widely used R packages developed for model selection, and (iii) automation to increase the accuracy, efficiency, and accessibility of QTL mapping. QTL mapping experiments on tomato F2populations in which QTL effects were simulated or calculated showed advantages of postQTL in QTL detection.
Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report
Authors: Perche Olivier , Lesne Fabien , Patat Alain , Raab Susanne , Twyman Roy , Ring Robert H. , Briault Sylvain 
Published: May 2022

Abstract
Background
Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its α-subunit, have been linked to several neurological features, including intellectual disability or autism. Associated with neurodevelopmental phenotypes, sensory function disturbances are considered to be important clinical features contributing to a variety of behavioral impairments. Large-conductance calcium-activated potassium channels are important in regulating neurotransmission in sensory circuits, including visual pathways. Deficits in visual function can contribute substantially to poor quality of life, while therapeutic approaches aimed at addressing such visual deficits represent opportunities to improve neurocognitive and neurobehavioral outcomes.

Case presentation
We describe the case of a 25-year-old Caucasian male with autism spectrum disorder and severe intellectual disability presenting large-conductance calcium-activated potassium channel haploinsufficiency due to a de novo balanced translocation (46, XY, t [9; 10] [q23;q22]) disrupting the KCNMA1 gene. The visual processing pathway of the subject was evaluated using both electroretinography and visual contrast sensitivity, indicating that both retinal bipolar cell function and contrast discrimination performance were reduced by approximately 60% compared with normative control values. These findings imply a direct link between KCNMA1 gene disruption and visual dysfunction in humans. In addition, the subject reported photophobia but did not exhibit strabismus, nystagmus, or other visual findings on physical examination.

Conclusions
This case study of a subject with large-conductance calcium-activated potassium channel haploinsufficiency and photophobia revealed a visual pathway deficit at least at the retinal level, with diminished retinal light capture likely due to bipolar cell dysfunction and an associated loss of contrast sensitivity. The data suggest that large-conductance calcium-activated potassium channels play an important role in the normal functioning of the visual pathway in humans, and that their disruption may play a role in visual and other sensory system symptomatology in large-conductance calcium-activated potassium channelopathies or conditions where disruption of large-conductance calcium-activated potassium channel function is a relevant feature of the pathophysiology, such as fragile X syndrome. This work suggests that the combined use of physiological (electroretinography) and functional (contrast sensitivity) approaches may have utility as a biomarker strategy for identifying and characterizing visual processing deficits in individuals with large-conductance calcium-activated potassium channelopathy.
Trial registration ID-RCB number 2019-A01015-52, registered 17/05/2019.
Cereal type and combined xylanase/glucanase supplementation influence the cecal microbiota composition in broilers
Authors: Kouzounis Dimitrios , Kers Jannigje G. , Soares Natalia , Smidt Hauke , Kabel Mirjam A. , Schols Henk A. 
Published: May 2022

AbstractDietary fiber-degrading enzyme supplementation in broilers aims at off-setting the anti-nutritive effect of non-starch polysaccharides and at promoting broiler health. Recently, we demonstrated that xylanase/glucanase addition in wheat-based diet improved nutrient digestibility, arabinoxylan fermentability and broiler growth. Conversely, maize arabinoxylan was found to be recalcitrant to xylanase action. These findings suggested that enzyme-mediated improvement of nutrient digestion and carbohydrate fermentation depended on the cereal type present in the diet, and may have contributed to broiler growth. Hence, we aimed at further investigating the link between dietary enzymes and carbohydrate fermentation in broilers, by studying the impact of enzyme supplementation in cereal-based diets, to the microbial communities in the ileum and ceca of broilers. For that purpose, 96 one-day-old male broilers were randomly reared in two pens and received either wheat-based or maize-based starter and grower diets. At d 20, the broilers were randomly assigned to one out of four dietary treatments. The broilers received for 8 d the wheat-based or maize-based finisher diet as such (Control treatments; WC, MC) or supplemented with a xylanase/glucanase combination (Enzyme treatments; WE, ME). At d 28, samples from the digestive tract were collected, and the ileal and cecal microbiota composition was determined by 16S ribosomal RNA gene amplicon sequencing. A similar phylogenetic (alpha) diversity was observed among the four treatments, both in the ileal and the cecal samples. Furthermore, a similar microbial composition in the ileum (beta diversity) was observed, with lactobacilli being the predominant community for all treatments. In contrast, both cereal type and enzyme supplementation were found to influence cecal communities. The type of cereal (i.e., wheat or maize) explained 47% of the total variation in microbial composition in the ceca. Further stratifying the analysis per cereal type revealed differences in microbiota composition between WC and WE, but not between MC and ME. Furthermore, the prevalence of beneficial genera, such as Faecalibacterium and Blautia, in the ceca of broilers fed wheat-based diets coincided with arabinoxylan accumulation. These findings indicated that fermentable arabinoxylan and arabinoxylo-oligosaccharides released by dietary xylanase may play an important role in bacterial metabolism.
Uncovering the genetic diversity of Giardia intestinalis in isolates from outbreaks in New Zealand
Authors: Ogbuigwe Paul , Biggs Patrick J. , Garcia-Ramirez Juan Carlos , Knox Matthew A. , Pita Anthony , Velathanthiri Niluka , French Nigel P. , Hayman David T. S. 
Published: May 2022

Abstract
Background
Giardia intestinalis is one of the most common causes of diarrhoea worldwide. Molecular techniques have greatly improved our understanding of the taxonomy and epidemiology of this parasite. Co-infection with mixed (sub-) assemblages has been reported, however, Sanger sequencing is sometimes unable to identify shared subtypes between samples involved in the same epidemiologically linked event, due to samples showing multiple dominant subtypes within the same outbreak. Here, we aimed to use a metabarcoding approach to uncover the genetic diversity within samples from sporadic and outbreak cases of giardiasis to characterise the subtype diversity, and determine if there are common sequences shared by epidemiologically linked cases that are missed by Sanger sequencing.

Methods
We built a database with 1109 unique glutamate dehydrogenase (gdh) locus sequences covering most of the assemblages of G. intestinalis and used gdh metabarcoding to analyse 16 samples from sporadic and outbreak cases of giardiasis that occurred in New Zealand between 2010 and 2018.

Results
There is considerable diversity of subtypes of G. intestinalis present in each sample. The utilisation of metabarcoding enabled the identification of shared subtypes between samples from the same outbreak. Multiple variants were identified in 13 of 16 samples, with Assemblage B variants most common, and Assemblages E and A present in mixed infections.

Conclusions
This study showed that G. intestinalis infections in humans are frequently mixed, with multiple subtypes present in each host. Shared sequences among epidemiologically linked cases not identified through Sanger sequencing were detected. Considering the variation in symptoms observed in cases of giardiasis, and the potential link between symptoms and (sub-) assemblages, the frequency of mixed infections could have implications for our understanding of host–pathogen interactions.

Graphical Abstract