bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic dissection of canine hip dysplasia phenotypes and osteoarthritis reveals three novel loci
Authors: Mikkola Lea , Holopainen Saila , Pessa-Morikawa Tiina , Lappalainen Anu K. , Hytönen Marjo K. , Lohi Hannes , Iivanainen Antti 
Published: December 2019

AbstractBackgroundHip dysplasia and osteoarthritis continue to be prevalent problems in veterinary and human medicine. Canine hip dysplasia is particularly problematic as it massively affects several large-sized breeds and can cause a severe impairment of the quality of life. In Finland, the complex condition is categorized to five classes from normal to severe dysplasia, but the categorization includes several sub-traits: congruity of the joint, Norberg angle, subluxation degree of the joint, shape and depth of the acetabulum, and osteoarthritis. Hip dysplasia and osteoarthritis have been proposed to have separate genetic etiologies.ResultsUsing Fédération Cynologique Internationale -standardized ventrodorsal radiographs, German shepherds were rigorously phenotyped for osteoarthritis, and for joint incongruity by Norberg angle and femoral head center position in relation to dorsal acetabular edge. The affected dogs were categorized into mild, moderate and severe dysplastic phenotypes using official hip scores. Three different genome-wide significant loci were uncovered. The strongest candidate genes for hip joint incongruity were noggin (NOG), a bone and joint developmental gene on chromosome 9, and nanos C2HC-type zinc finger 1 (NANOS1), a regulator of matrix metalloproteinase 14 (MMP14) on chromosome 28. Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity.ConclusionsOur findings highlight the complexity of canine hip dysplasia phenotypes. In particular, the results of this study point to the potential involvement of specific and partially distinct loci and genes or pathways in the development of incongruity, mild dysplasia, moderate-to-severe dysplasia and osteoarthritis of canine hip joints. Further studies should unravel the unique and common mechanisms for the various sub-traits.
An atypical HLH transcriptional regulator plays a novel and important role in strawberry ripened receptacle
Authors: Medina-Puche Laura , Martínez-Rivas Félix J. , Molina-Hidalgo Francisco J. , Mercado José A. , Moyano Enriqueta , Rodríguez-Franco Antonio , Caballero José L. , Muñoz-Blanco Juan , Blanco-Portales Rosario 
Published: December 2019

Abstract
Background
In soft fruits, the differential expression of many genes during development and ripening is responsible for changing their organoleptic properties. In strawberry fruit, although some genes involved in the metabolic regulation of the ripening process have been functionally characterized, some of the most studied genes correspond to transcription factors. High throughput transcriptomics analyses performed in strawberry red receptacle (Fragaria x ananassa) allowed us to identify a ripening-related gene that codes an atypical HLH (FaPRE1) with high sequence homology with the PACLOBUTRAZOL RESISTANCE (PRE) genes. PRE genes are atypical bHLH proteins characterized by the lack of a DNA-binding domain and whose function has been linked to the regulation of cell elongation processes.

Results
FaPRE1 sequence analysis indicates that this gene belongs to the subfamily of atypical bHLHs that also includes ILI-1 from rice, SlPRE2 from tomato and AtPRE1 from Arabidopsis, which are involved in transcriptional regulatory processes as repressors, through the blockage by heterodimerization of bHLH transcription factors. FaPRE1 presented a transcriptional model characteristic of a ripening-related gene with receptacle-specific expression, being repressed by auxins and activated by abscisic acid (ABA). However, its expression was not affected by gibberellic acid (GA3). On the other hand, the transitory silencing of FaPRE1 transcription by agroinfiltration in receptacle produced the down-regulation of a group of genes related to the ripening process while inducing the transcription of genes involved in receptacle growth and development.

Conclusions
In summary, this work presents for the first time experimental data that support an important novel function for the atypical HLH FaPRE1 during the strawberry fruit ripening. We hypothesize that FaPRE1 modulates antagonistically the transcription of genes related to both receptacle growth and ripening. Thus, FaPRE1 would repress the expression of receptacle growth promoting genes in the ripened receptacle, while it would activate the expression of those genes related to the receptacle ripening process.
A high-density genetic map constructed using specific length amplified fragment (SLAF) sequencing and QTL mapping of seed-related traits in sesame (Sesamum indicum L.)
Authors: Du Hua , Zhang Haiyang , Wei Libin , Li Chun , Duan Yinghui , Wang Huili 
Published: December 2019

AbstractBackgroundSesame (Sesamum indicumL., 2n = 2x = 26) is an important oilseed crop with high oil content but small seed size. To reveal the genetic loci of the quantitative seed-related traits, we constructed a high-density single nucleotide polymorphism (SNP) linkage map of an F2population by using specific length amplified fragment (SLAF) technique and determined the quantitative trait loci (QTLs) of seed-related traits for sesame based on the phenotypes of F3progeny.ResultsThe genetic map comprised 2159 SNP markers distributed on 13 linkage groups (LGs) and was 2128.51 cM in length, with an average distance of 0.99 cM between adjacent markers. QTL mapping revealed 19 major-effect QTLs with the phenotypic effect (R2) more than 10%, i.e., eight QTLs for seed coat color, nine QTLs for seed size, and two QTLs for 1000-seed weight (TSW), using composite interval mapping method. Particularly, LG04 and LG11 contained collocated QTL regions for the seed coat color and seed size traits, respectively, based on their close or identical locations. In total, 155 candidate genes for seed coat color, 22 for seed size traits, and 54 for TSW were screened and analyzed.ConclusionsThis report presents the first QTL mapping of seed-related traits in sesame using an F2population. The results reveal the location of specific markers associated with seed-related traits in sesame and provide the basis for further seed quality traits research.
Identification and characterization of the TCA cycle genes in maize
Authors: Liu Yongming , Qu Jingtao , Zhang Ling , Xu Xiangyu , Wei Gui , Zhao Zhuofan , Ren Maozhi , Cao Moju 
Published: December 2019

Abstract
Background
The tricarboxylic acid (TCA) cycle is crucial for cellular energy metabolism and carbon skeleton supply. However, the detailed functions of the maize TCA cycle genes remain unclear.

Results
In this study, 91 TCA genes were identified in maize by a homology search, and they were distributed on 10 chromosomes and 1 contig. Phylogenetic results showed that almost all maize TCA genes could be classified into eight major clades according to their enzyme families. Sequence alignment revealed that several genes in the same subunit shared high protein sequence similarity. The results of cis-acting element analysis suggested that several TCA genes might be involved in signal transduction and plant growth. Expression profile analysis showed that many maize TCA cycle genes were expressed in specific tissues, and replicate genes always shared similar expression patterns. Moreover, qPCR analysis revealed that some TCA genes were highly expressed in the anthers at the microspore meiosis phase. In addition, we predicted the potential interaction networks among the maize TCA genes. Next, we cloned five TCA genes located on different TCA enzyme complexes, Zm00001d008244 (isocitrate dehydrogenase, IDH), Zm00001d017258 (succinyl-CoA synthetase, SCoAL), Zm00001d025258 (α-ketoglutarate dehydrogenase, αKGDH), Zm00001d027558 (aconitase, ACO) and Zm00001d044042 (malate dehydrogenase, MDH). Confocal observation showed that their protein products were mainly localized to the mitochondria; however, Zm00001d025258 and Zm00001d027558 were also distributed in the nucleus, and Zm00001d017258 and Zm00001d044042 were also located in other unknown positions in the cytoplasm. Through the bimolecular fluorescent complimentary (BiFC) method, it was determined that Zm00001d027558 and Zm00001d044042 could form homologous dimers, and both homologous dimers were mainly distributed in the mitochondria. However, no heterodimers were detected between these five genes. Finally, Arabidopsis lines overexpressing the above five genes were constructed, and those transgenic lines exhibited altered primary root length, salt tolerance, and fertility.

Conclusion
Sequence compositions, duplication patterns, phylogenetic relationships, cis-elements, expression patterns, and interaction networks were investigated for all maize TCA cycle genes. Five maize TCA genes were overexpressed in Arabidopsis, and they could alter primary root length, salt tolerance, and fertility. In conclusion, our findings may help to reveal the molecular function of the TCA genes in maize.
Anesthesiology and cognitive impairment: a narrative review of current clinical literature
Authors: Belrose Jillian C. , Noppens Ruediger R. 
Published: December 2019

Abstract
Background
The impact of general anesthesia on cognitive impairment is controversial and complex. A large body of evidence supports the association between exposure to surgery under general anesthesia and development of delayed neurocognitive recovery in a subset of patients. Existing literature continues to debate whether these short-term effects on cognition can be attributed to anesthetic agents themselves, or whether other variables are causative of the observed changes in cognition. Furthermore, there is conflicting data on the relationship between anesthesia exposure and the development of long-term neurocognitive disorders, or development of incident dementia in the patient population with normal preoperative cognitive function. Patients with pre-existing cognitive impairment present a unique set of anesthetic considerations, including potential medication interactions, challenges with cooperation during assessment and non-general anesthesia techniques, and the possibility that pre-existing cognitive impairment may impart a susceptibility to further cognitive dysfunction.

Main body
This review highlights landmark and recent studies in the field, and explores potential mechanisms involved in perioperative cognitive disorders (also known as postoperative cognitive dysfunction, POCD). Specifically, we will review clinical and preclinical evidence which implicates alterations to tau protein, inflammation, calcium dysregulation, and mitochondrial dysfunction. As our population ages and the prevalence of Alzheimer’s disease and other forms of dementia continues to increase, we require a greater understanding of potential modifiable factors that impact perioperative cognitive impairment.

Conclusions
Future research should aim to further characterize the associated risk factors and determine whether certain anesthetic approaches or other interventions may lower the potential risk which may be conferred by anesthesia and/or surgery in susceptible individuals.
Point-of-care versus central testing of hemoglobin during large volume blood transfusion
Authors: Herman Justin , Park Brian , Awsare Bharat , West Frances , Crittendon Denine , Evans Lilah , Harach Mary , Karp Julie , Peedin Alexis , LaNoue Marianna , Goldsmith Barbara , Warnick Eugene , Baram Michael 
Published: December 2019

Abstract
Background
Point-of-care (POC) hemoglobin testing has the potential to revolutionize massive transfusion strategies. No prior studies have compared POC and central laboratory testing of hemoglobin in patients undergoing massive transfusions.

Methods
We retrospectively compared the results of our point-of-care hemoglobin test (EPOC®) to our core laboratory complete blood count (CBC) hemoglobin test (Sysmex XE-5000™) in patients undergoing massive transfusion protocols (MTP) for hemorrhage. One hundred seventy paired samples from 90 patients for whom MTP was activated were collected at a single, tertiary care hospital between 10/2011 and 10/2017. Patients had both an EPOC® and CBC hemoglobin performed within 30 min of each other during the MTP. We assessed the accuracy of EPOC® hemoglobin testing using two variables: interchangeability and clinically significant differences from the CBC. The Clinical Laboratory Improvement Amendments (CLIA) proficiency testing criteria defined interchangeability for measurements. Clinically significant differences between the tests were defined by an expert panel. We examined whether these relationships changed as a function of the hemoglobin measured by the EPOC® and specific patient characteristics.

Results
Fifty one percent (86 of 170) of paired samples’ hemoglobin results had an absolute difference of ≤7 and 73% (124 of 170) fell within ±1 g/dL of each other. The mean difference between EPOC® and CBC hemoglobin had a bias of − 0.268 g/dL (p = 0.002). When the EPOC® hemoglobin was < 7 g/dL, 30% of the hemoglobin values were within ±7, and 57% were within ±1 g/dL. When the measured EPOC® hemoglobin was ≥7 g/dL, 55% of the EPOC® and CBC hemoglobin values were within ±7, and 76% were within ±1 g/dL. EPOC® and CBC hemoglobin values that were within ±1 g/dL varied by patient population: 77% for cardiac surgery, 58% for general surgery, and 72% for non-surgical patients.

Conclusions
The EPOC® device had minor negative bias, was not interchangeable with the CBC hemoglobin, and was less reliable when the EPOC® value was < 7 g/dL. Clinicians must consider speed versus accuracy, and should check a CBC within 30 min as confirmation when the EPOC® hemoglobin is < 7 g/dL until further prospective trials are performed in this population.
The prevalence, awareness, management and control of hypertension in men and women in Benin, West Africa: the TAHES study
Authors: Desormais Ileana , Amidou Salimanou Ariyoh , Houehanou Yessito Corine , Houinato Stephan Dismand , Gbagouidi Gwladys Nadia , Preux Pierre Marie , Aboyans Victor , Lacroix Philippe 
Published: December 2019

Abstract
Background
Due to epidemiological transitions, Sub-Saharan Africa is facing a growing burden of non-communicable diseases, including cardiovascular diseases (CVDs). Among their risk factors, hypertension is a major determinant of CVDs, but the prevalence and level of awareness and management of this condition are poorly studied in African populations. The aim of this study was to determine the prevalence of hypertension and identify its associated risk factors as well as the awareness and management of this condition in a community-dwelling cohort in Benin.

Methods
A cross-sectional door-to-door study was conducted in the population over the age of 25 years in Tanve, a rural setting in Benin. The questionnaire and anthropometric measurements of the World Health Organization STEPWISE survey were used. Blood pressure was measured using standard procedures.

Results
The sample included 1777 subjects (60.9% females, mean age was 42.5 ± 16.5 years). The prevalence of hypertension was 32.9%, similar in men (32.8%) and women (33.0%, p = 0.9342). Age and obesity were significantly associated with hypertension. Less than half (42%) of hypertensive people were aware about their condition and only 46.3% of them were treated. Awareness ratios differed between men and women (respectively 32.9% vs. 47.5%; p = 0.0039) and was not influenced by age, education, occupation, marital status or income. Female sex was the only factor associated with better controlled HTN, independent of socio-economic parameters.

Conclusion
This large population-based study confirms the high prevalence, low awareness, and low control of hypertension in men and women in sub-Saharan Africa. Only half of the populations with hypertension are aware of their hypertension, indicating a high burden of undiagnosed and un-controlled high blood pressure in these populations.
First-degree relatives with similar phenotypic characterisation of acute myocardial infarction: a case report and review of the literature
Authors: Hao Yi-Dan , Ohene Bright Eric , Yang Shi-Wei , Zhou Yu-Jie 
Published: December 2019

Abstract
Background
Genetic susceptibility to the development of coronary artery disease (CAD) and myocardial infarction (MI) is well established. However, lack of replication, and difficulty in the identification of specific genes that underlie impressive linkage peaks remain challenges at the molecular level due to the heterogeneity of phenotype and their associated genotypes. We present two cases of first-degree family members of acute myocardial infarction (AMI) having similar clinical and angiographic features of obstructive coronary lesions at same anatomic locations.

Case presentation
The father presented with significant chest discomfort and loss of consciousness. The electrocardiogram (ECG) showed an acute anterior ST-segment–elevation myocardial infarction (STEMI). Coronary angiogram demonstrated a subtotal occlusion in the mid-left anterior descending (LAD) coronary artery. One week later, the son presented after an in-hospital cardiac arrest with pulseless electric activity preceded by significant chest pain and loss of consciousness. His ECG also showed an acute anterior STEMI. Catheterization revealed strikingly similar angiographic characteristics with his father: subtotal occlusion in the proximal to mid-LAD coronary artery.

Conclusions
More considerations should be given to patients with similar phenotypic characterization in genetic studies of CAD/MI in the future.
The frequency and impact of admission hyperglycemia on short term outcome of acute stroke patients admitted to Tikur Anbessa Specialized hospital, Addis Ababa, Ethiopia: a cross-sectional study
Authors: Zewde Yared Zenebe , Mengesha Abenet Tafesse , Gebreyes Yeweynhareg Feleke , Naess Halvor 
Published: December 2019

Abstract
Background
Admission hyperglycemia (HG) has been associated with worse outcomes among acute stroke patients. A better understanding and awareness of the potentially adverse influence of hyperglycemia on the clinical outcome of acute stroke patients would help to provide guidance for acute stroke management and prevention of its adverse outcomes. We aimed to assess the frequency of admission hyperglycemia and its impact on short term (30-days) morbidity and mortality outcomes of stroke in adult Ethiopian patients in an urban setting.

Methods
A prospective, cross-sectional study was conducted among acute stroke patients admitted to Tikur Anbessa Specialized Hospital (TASH), within 72 h of symptom onset, from July to December 2016. Socio-demographic data, neuroimaging findings and capillary blood glucose values were obtained on admission. Hyperglycemia was defined as > 140 mg/dl. National Institute of Health Stroke Scale (NIHSS) and modified Rankin Scale (mRS) were used to assess the baseline stroke severity and the 30-days post-stroke outcome, respectively.

Results
A total of 103 first-ever acute stroke patients were included (mean age = 55.5 + 15.3 years, 64.1% male and 65% under the age of 65 years) and 51 (49.5%) were hyperglycemic at time of admission. The median admission NIHSS score was worse in the hyperglycemic patients 14 (IQR 10–19) compared to normoglycemic patients 11 (IQR 8–15). Among stroke survivors, patients with hyperglycemia were 3.83 times (95% CI, 1.99–6.19) more likely to be functionally impaired (mRS = 3–5) at 30-days compared to normoglycemic patients (P = 0.041).Older age (≥ 65 years) (P = 0.017) and stroke severity (NIHSS > 14) (P = 0.006) at admission were both significantly associated with poor functional recovery at 30-day. Among patients who died at 30-day, two-third (66.7%) were hyperglycemic but they failed to show any significant association.

Conclusions
Hyperglycemia is prevalent among Ethiopian stroke patients at the time of presentation and it is associated with significantly poor functional recovery at 30th-day of follow up. This finding provides a rationale for achieving normal blood glucose in the course of acute stroke management which could have a favorable impact on the neurological outcome and quality of life for patients.
Predicting the serum digoxin concentrations of infants in the neonatal intensive care unit through an artificial neural network
Authors: Yao Shu-Hui , Tsai Hsiang-Te , Lin Wen-Lin , Chen Yu-Chieh , Chou Chiahung , Lin Hsiang-Wen 
Published: December 2019

AbstractBackgroundGiven its narrow therapeutic range, digoxin’s pharmacokinetic parameters in infants are difficult to predict due to variation in birth weight and gestational age, especially for critically ill newborns. There is limited evidence to support the safety and dosage requirements of digoxin, let alone to predict its concentrations in infants. This study aimed to compare the concentrations of digoxin predicted by traditional regression modeling and artificial neural network (ANN) modeling for newborn infants given digoxin for clinically significant patent ductus arteriosus (PDA).MethodsA retrospective chart review was conducted to obtain data on digoxin use for clinically significant PDA in a neonatal intensive care unit. Newborn infants who were given digoxin and had digoxin concentration(s) within the acceptable range were identified as subjects in the training model and validation datasets, accordingly. Their demographics, disease, and medication information, which were potentially associated with heart failure, were used for model training and analysis of digoxin concentration prediction. The models were generated using backward standard multivariable linear regressions (MLRs) and a standard backpropagation algorithm of ANN, respectively. The common goodness-of-fit estimates, receiver operating characteristic curves, and classification of sensitivity and specificity of the toxic concentrations in the validation dataset obtained from MLR or ANN models were compared to identify the final better predictive model.ResultsGiven the weakness of correlations between actual observed digoxin concentrations and pre-specified variables in newborn infants, the performance of all ANN models was better than that of MLR models for digoxin concentration prediction. In particular, the nine-parameter ANN model has better forecasting accuracy and differentiation ability for toxic concentrations.ConclusionThe nine-parameter ANN model is the best alternative than the other models to predict serum digoxin concentrations whenever therapeutic drug monitoring is not available. Further cross-validations using diverse samples from different hospitals for newborn infants are needed.