bluuebunny/crossref_metadata_2025_split huggingface dataset:
Signatures of selection in the genome of Swedish warmblood horses selected for sport performance
Authors: Ablondi Michela , Viklund Åsa , Lindgren Gabriella , Eriksson Susanne , Mikko Sofia 
Published: September 2019

AbstractBackgroundA growing demand for improved physical skills and mental attitude in modern sport horses has led to strong selection for performance in many warmblood studbooks. The aim of this study was to detect genomic regions with low diversity, and therefore potentially under selection, in Swedish Warmblood horses (SWB) by analysing high-density SNP data. To investigate if such signatures could be the result of selection for equestrian sport performance, we compared our SWB SNP data with those from Exmoor ponies, a horse breed not selected for sport performance traits.ResultsThe genomic scan for homozygous regions identified long runs of homozygosity (ROH) shared by more than 85% of the genotyped SWB individuals. Such ROH were located on ECA4, ECA6, ECA7, ECA10 and ECA17. Long ROH were instead distributed evenly across the genome of Exmoor ponies in 77% of the chromosomes. Two population differentiation tests (FSTand XP-EHH) revealed signatures of selection on ECA1, ECA4, and ECA6 in SWB horses.ConclusionsGenes related to behaviour, physical abilities and fertility, appear to be targets of selection in the SWB breed. This study provides a genome-wide map of selection signatures in SWB horses, and ground for further functional studies to unravel the biological mechanisms behind complex traits in horses.
Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia
Authors: Escouflaire Clémentine , Rebours Emmanuelle , Charles Mathieu , Orellana Sébastien , Cano Margarita , Rivière Julie , Grohs Cécile , Hayes Hélène , Capitan Aurélien 
Published: September 2019

AbstractBackgroundIn mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only four genes,EDA,EDAR,EDARADDandWNT10Aaccount for more than 90% of HED cases, andEDA, on chromosome X, is involved in 50% of the cases. In this study, we explored an isolated case of a female Holstein calf with symptoms similar to HED.ResultsClinical examination confirmed the diagnosis. The affected female showed homogeneous hypotrichosis and oligodontia as previously observed in bovineEDARhomozygous andEDAhemizygous mutants. Under light microscopy, the hair follicles were thinner and located higher in the dermis of the frontal skin in the affected animal than in the control. Moreover, the affected animal showed a five-fold increase in the number of hair follicles and a four-fold decrease in the diameter of the pilary canals. Pedigree analysis revealed that the coefficient of inbreeding of the affected calf (4.58%) was not higher than the average population inbreeding coefficient (4.59%). This animal had ten ancestors in its paternal and maternal lineages. By estimating the number of affected cases that would be expected if any of these common ancestors carried a recessive mutation, we concluded that, if they existed, other cases of HED should have been reported in France, which is not the case. Therefore, we assumed that the causal mutation was dominant and de novo. By analyzing whole-genome sequencing data, we identified a large chromosomal inversion with breakpoints located in the first introns of theEDAandXISTgenes. Genotyping by PCR-electrophoresis the case and its parents allowed us to demonstrate the de novo origin of this inversion. Finally, using various sources of information we present a body of evidence that supports the hypothesis that this mutation is responsible for a skewed inactivation of X, and that only the normal X can be inactivated.ConclusionsIn this article, we report a unique case of X-linked HED affected Holstein female calf with an assumed full inactivation of the normal X-chromosome, thus leading to a severe phenotype similar to that of hemizygous males.
Evolution of resistance mechanisms and biological characteristics of rifampicin-resistant Staphylococcus aureus strains selected in vitro
Authors: Wang Chong , Fang Renchi , Zhou Beibei , Tian Xuebin , Zhang Xiucai , Zheng Xiangkuo , Zhang Siqin , Dong Guofeng , Cao Jianming , Zhou Tieli 
Published: September 2019

Abstract

Background
We aimed to determine the evolutionary pathways of rifampicin resistance in Staphylococcus aureus, and the impact of resistance mutations in the rpoB gene on fitness.

Methods
Three clinical strains and one reference strain were used to select for rifampicin-resistant S. aureus variants. The mutations responsible for rifampicin resistance in all of the selected isolates in vitro were investigated by polymerase chain reaction (PCR) and DNA sequencing. To compare the fitness cost of rpoB mutations against their corresponding original isolates, we performed bacterial growth curve assays, static biofilm assays, in vitro competition experiments and an infection model of Galleria mellonella larvae.

Results
We obtained four rifampicin-resistant S. aureus isolates that showed high levels of resistance to rifampicin with a minimal inhibitory concentration (MIC) of 128 mg/L, and all isolates had a mutation at position 481 (H481F/Y) in RpoB. A broth microdilution assay indicated that mutation of H481F/Y did not affect susceptibility to common antibacterial drugs but slightly increased the vancomycin MIC. To identify the pathways involved in the development of rifampicin resistance, 32 variants (eight mutants for each strain) and four original isolates were selected for gene sequencing. Different generations of isolates were found to harbor various mutations sites. Compared with the corresponding original isolates, an in vitro fitness assay of the variant isolates showed that growth and virulence were reduced, with a statistically significantly decreased fitness, whereas the capacity for biofilm formation was elevated.

Conclusions
Our findings suggested that the acquisition of rifampicin resistance in S. aureus was dynamic and was associated with a significant fitness cost.
QTL and candidate genes associated with leaf anion concentrations in response to phosphate supply in Arabidopsis thaliana
Authors: El-Soda Mohamed , Neris Moreira Charles , Goredema-Matongera Nakai , Jamar Diaan , Koornneef Maarten , Aarts Mark G. M. 
Published: September 2019

AbstractBackgroundPhosphorus is often present naturally in the soil as inorganic phosphate, Pi, which bio-availability is limited in many ecosystems due to low soil solubility and mobility. Plants respond to low Pi with a Pi Starvation Response, involving Pi sensing and long-distance signalling. There is extensive cross-talk between Pi homeostasis mechanisms and the homeostasis mechanism for other anions in response to Pi availability.ResultsRecombinant Inbred Line (RIL) and Genome Wide Association (GWA) mapping populations, derived from or composed of natural accessions ofArabidopsis thaliana, were grown under sufficient and deficient Pi supply. Significant treatment effects were found for all traits and significant genotype x treatment interactions for the leaf Pi and sulphate concentrations. Using the RIL/QTL population, we identified 24 QTLs for leaf concentrations of Pi and other anions, including a major QTL for leaf sulphate concentration (SUL2) mapped to the bottom of chromosome (Chr) 1. GWA mapping found 188 SNPs to be associated with the measured traits, corresponding to 152 genes. One of these SNPs, associated with leaf Pi concentration, mapped toPP2A-1, a gene encoding an isoform of the catalytic subunit of a protein phosphatase 2A. Of two additional SNPs, associated with phosphate use efficiency (PUE), one mapped to AT5G49780, encoding a leucine-rich repeat protein kinase involved in signal transduction, and the other toSIZ1, a gene encoding a SUMO E3 ligase, and a known regulator of P starvation-dependent responses. One SNP associated with leaf sulphate concentration was found inSULTR2;1,encoding a sulphate transporter, known to enhance sulphate translocation from root to shoot under P deficiency. Finally, one SNP was mapped toFMO GS-OX4, a gene encoding glucosinolate S-oxygenase involved in glucosinolate biosynthesis, which located within the confidence interval of theSUL2locus.ConclusionWe identified several candidate genes with known functions related to anion homeostasis in response to Pi availability. Further molecular studies are needed to confirm and validate these candidate genes and understand their roles in examined traits. Such knowledge will contribute to future breeding for improved crop PUE .
Prophylactic HIPEC with radical D2 gastrectomy improves survival and peritoneal recurrence rates for locally advanced gastric cancer: personal experience from a randomized case control study
Authors: Beeharry Maneesh Kumarsing , Zhu Zheng-Lun , Liu Wen-Tao , Yao Xue-Xin , Yan Min , Zhu Zheng-Gang 
Published: September 2019

Abstract

Background
To investigate the implications of prophylactic intraoperative Hyperthermic Intraperitoneal Chemotherapy (HIPEC) with D2 radical gastrectomy for locally advanced Gastric Cancer (AGC) in a randomized case control study.

Method
Eighty consecutive patients with locally AGC were randomly separated into 2 groups: HIPEC group (Curative Resection + intraoperative HIPEC with cisplatin 50 mg/m2 at 42.0 ± 1.0 °C for 60 min) and Control group (Curative Resection only). Intraoperative and post-operative events, clinical recovery, morbidity and the disease-free survival (DFS) rates were closely monitored.

Results
Faster recovery of bowel function (43 ± 5 h vs 68 ± 7, P < 0.05) and shorter postoperative stay (8d vs 14d, P < 0.05) were noted in the HIPEC group. Among the 40 HIPEC group patients, the highest intracranial temperature recorded during the procedure was 38.2 °C but the patient made an eventless recovery. Mild renal dysfunction, hyperbilirubinemia and mild liver dysfunction were recorded in the HIPEC group but their incidences were found to be statistically insignificant when compared with the control group (P > 0.05). The 3 year DFS rate analysis showed that the prophylactic HIPEC group had a higher DFS rate (93% vs 65%, P = 0.0054). The peritoneal recurrence rate was lower in the HIPEC group (3% vs 23%, P < 0.05).

Conclusion
Prophylactic HIPEC with radical D2 Gastrectomy improves survival and peritoneal recurrence rates for AGC with favorable post-operative recovery at low and acceptable morbidity.
Mothers with and without bipolar disorder and their infants: group differences in mother-infant interaction patterns at three months postpartum
Authors: Anke Teija M. S. , Slinning Kari , Moe Vibeke , Brunborg Cathrine , Siqveland Torill S. , Skjelstad Dag Vegard 
Published: September 2019

Abstract

Background
Women with bipolar disorder (BD) have a high risk of illness relapse postpartum. The risk coincides with the period when mother-infant interactions are evolving. We compared mother-infant interactions in dyads where the mothers have BD with dyads where the mothers have no mental disorder. The association between concurrent affective symptoms of BD mothers and interaction quality was investigated.

Methods
Twenty-six women with BD and 30 comparison women with infants were included. The Parent-Child Early Relational Assessment (PCERA) was used to assess maternal behaviour, infant behaviour and dyadic coordination in interactions at 3 months postpartum. The Inventory of Depressive Symptomatology and Young Mania Rating Scale were used to assess affective symptoms of BD mothers at the time of interaction.

Results
There were significant group differences with medium to large effect sizes (0.73–1.32) on five of six subscales within the three interactional domains. Most interactional concerns were identified in dyadic coordination. No significant associations were found between maternal symptom load and interaction quality within the BD sample. Forty-six percent of the BD mothers experienced a mood episode within 0–3 months postpartum.

Conclusions
The present study identified challenges for mothers with BD and their infants in “finding” each other in interaction at 3 months postpartum. If sustained, this interaction pattern may have a long-term impact on children’s development. We suggest interventions specifically focusing on sensitising and supporting mothers to read infants’ cues on a micro-level. This may help them to respond contingently and improve dyadic coordination and synchronicity.
Process evaluation of the Getting it Right study and acceptability and feasibility of screening for depression with the aPHQ-9
Authors:   on behalf of the Getting it Right Investigators, Farnbach Sara , Gee Graham , Eades Anne-Marie , Evans John Robert , Fernando Jamie , Hammond Belinda , Simms Matty , DeMasi Karrina , Glozier Nick , Brown Alex , Hackett Maree L. 
Published: September 2019

Abstract

Background
The Getting it Right study determined the validity, sensitivity, specificity and acceptability of the culturally adapted 9-item Patient Health Questionnaire (aPHQ-9) as a screening tool for depression in Aboriginal and Torres Strait Islander (hereafter referred to as Indigenous) people. In this process evaluation we aimed to explore staff perceptions about whether Getting it Right was conducted per protocol, and if the aPHQ-9 was considered an acceptable and feasible screening tool for depression in primary healthcare. This process evaluation will provide information for clinicians and policy makers about the experiences of staff and patients with Getting it Right and what they thought about using the aPHQ-9.

Methods
Process evaluation using grounded theory approaches. Semi-structured interviews with primary healthcare staff from services participating in Getting it Right were triangulated with feedback (free-text and elicited) from participants collected during the validation study and field notes. Data were thematically analysed according to the Getting it Right study protocol to identify the acceptability and feasibility of the aPHQ-9.

Results
Primary healthcare staff (n = 36) and community members (n = 4) from nine of the ten participating Getting it Right services and Indigenous participants (n = 500) from the ten services that took part. Most staff reported that the research was conducted according to the study protocol. Staff from two services reported sometimes recruiting opportunistically (rather than recruiting consecutive patients attending the service as outlined in the main study protocol), when they spoke to patients who they knew from previous interactions, because they perceived their previous relationship may increase the likelihood of patients participating. All Getting it Right participants responded to at least six of the seven feedback questions and 20% provided free-text feedback. Most staff said they would use the aPHQ-9 and most participants said that the questions were easy to understand (87%), the response categories made sense (89%) and that they felt comfortable answering the questions (91%).

Conclusion
Getting it Right was predominantly conducted according to the study protocol. The aPHQ-9, the first culturally adapted, nationally validated, freely available depression screening tool for use by Indigenous people, appears to be acceptable and feasible to use.

Trial registration
Australian New Zealand Clinical Trial Registry ANZCTR12614000705684, 03/07/2014.
Maternal experiences of ethnic discrimination and subsequent birth outcomes in Aotearoa New Zealand
Authors: Thayer Zaneta , Bécares Laia , Atatoa Carr Polly 
Published: September 2019

Abstract

Background
Interpersonal discrimination experience has been associated with adverse birth outcomes. Limited research has evaluated this relationship within multicultural contexts outside the United States where the nature and salience of discrimination experiences may differ. Such research is important in order to help identify protective and risk factors that may mediate the relationship between discrimination experience and adverse birth outcomes.

Methods
Evaluated the relationship between perceived discrimination, as measured in pregnancy, with birth weight and gestation length among Māori, Pacific, and Asian women from Aotearoa New Zealand (N = 1653).

Results
Thirty percent of the sample reported some type of unfair treatment that they attributed to their ethnicity. For Māori women specifically, unfair treatment at work (β = − 243 g) and in acquiring housing (β = − 146 g) were associated with lower birth weight when compared to Māori women not experiencing these types of discrimination, while an ethnically motivated physical attack (β = − 1.06 week), and unfair treatment in the workplace (β = − 0.95 week), in the criminal justice system (β = − 0.55 week), or in banking (β = − 0.73 week) were associated with significantly shorter gestation.

Conclusions
Despite a high prevalence of discrimination experience among women from all ethnic groups, discrimination experience was a strong predictor of lower birth weight and shorter gestation length among indigenous Māori women only. Additional research is needed to better understand the risk and protective factors that may moderate the relationship between discrimination experience and adverse birth outcomes among women from different ethnic groups.
An unusual cause of delayed hematoma after carotid endarterectomy: a case report
Authors: Zhao Yi , Lai Zhichao , Song Xiaojun , Zeng Rong , Liu Changwei , Wang Xuebin , Zhang Rui , Ye Wei 
Published: September 2019

Abstract

Background
Neck hematoma is a complication of carotid endarterectomy, usually occurring in the comparatively early stage postoperatively.

Case presentation
We described a patient developing life-threatening hemorrhage and non-clotting hematoma at a comparatively later stage after CEA. DIC was diagnosed according to the lab results, and the patient underwent re-operation and was supported with blood products until the coagulopathy was corrected. The patient had a history of prostatic hyperplasia and experienced malaise during the hospitalization. Prostate cancer with bone metastases was diagnosed.

Conclusions
This case report describes a rare underlying cause of hematoma after CEA, which reminds us to pay attention to prostate symptoms or related medical history, especially malignancy, in surgical patients, which may result in severe complications.
Brain computerized tomography reading in suspected acute ischemic stroke patients: what are essentials for medical students?
Authors: Liu Chi-Hung , Hsiao Cheng-Ting , Chang Ting-Yu , Chang Yeu-Jhy , Kuo Sheng-Han , Chang Chun-Wei , Chen Chi-Jen , Chen Chien-Fu , Cheng Po-Liang , Chin Shy-Chyi , Chiu Te-Fa , Hsu Jung-Lung , Hsu Peng-Wei , Lee Tsong-Hai , Liao Chih-Hsiang , Lin Chun-Jen , Lin Li-Han , Seak Chen-June , Sung Pi-Shan , Yang Tao-Chieh , Wu Yi-Ming 
Published: September 2019

AbstractBackgroundFew systematic methods prioritize the image education in medical students (MS). We hope to develop a checklist of brain computerized tomography (CT) reading in patients with suspected acute ischemic stroke (AIS) for MS and primary care (PC) physicians.MethodsOur pilot group generated the items indicating specific structures or signs for the checklist of brain CT reading in suspected AIS patients for MS and PC physicians. These items were used in a modified web-based Delphi process using the online software “SurveyMonkey”. In total 15 panelists including neurologists, neurosurgeons, neuroradiologists, and emergency department physicians participated in the modified Delphi process. Each panelist was encouraged to express feedback, agreement or disagreement on the inclusion of each item using a 9-point Likert scale. Items with median scores of 7–9 were included in our final checklist.ResultsFifty-two items were initially provided for the first round of the Delphi process. Of these, 35 achieved general agreement of being an essential item for the MS and PC physicians. The other 17 of the 52 items in this round and another two added items suggested by the panelists were further rated in the next round. Finally, 38 items were included in the essential checklist items of brain CT reading in suspected AIS patients for MS and PC physicians.ConclusionsWe established a reference regarding the essential items of brain CT reading in suspected AIS patients. We hope this helps to minimize malpractice and a delayed diagnosis, and to improve competency-based medical education for MS and PC physicians.
Characteristics of older adults using patient web portals to view their DXA results
Authors: Edmonds Stephanie , Lou Yiyue , Robinson Brandi , Cram Peter , Roblin Douglas W. , Wright Nicole C. , Saag Kenneth , Wolinsky Fredric D. 
Published: September 2019

Abstract

Background
Sharing test results with patients via patient web portals is a new trend in healthcare. No research has been done examining patient web portal use with bone density test results. The objective of our study was to identify patient characteristics associated with the use of patient web portals to view their bone density test results.

Methods
A secondary analysis of data from a pragmatic randomized controlled trial of 7749 participants ≥50 years old that had presented for a dual energy X-ray absorptiometry (DXA) bone density test. Patients were interviewed at enrollment and 12 weeks later. Multivariable logistic regression identified patient characteristics that differentiated those who used the web portal from those who did not.

Results
Our sample included 4669 patients at the two (University of Iowa [UI], and Kaiser Permanente of Georgia [KPGA]) clinical sites that had patient web portals. Of these patients, 3399 (72.8%) reported knowing their test results 12 weeks post-DXA, with 649 (13.9%) reporting that they viewed their DXA results using the web portal. Web portal users were more likely to be from UI than KPGA, and were younger, more educated, had higher health literacy, had osteopenia, and had the same sex as their referring physician (all p < 0.05).

Conclusion
Only 19.1% of the 3399 patients who knew their DXA results used the available patient web portals to find out about them. Web portal users differed from non-users on several characteristics. This suggests that simply making patient web portals available for use may not be sufficient to appreciably enhance patient awareness of their test results. Based on these findings, a better understanding of the reasons why older, less educated, and less activated patients do not access their test results through patient web portals is needed.