Journal articles on the topic 'Across-country Genetic Evaluation'

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1

Opoola, O., G. Banos, J. M. K. Ojango, R. Mrode, G. Simm, C. B. Banga, L. M. Beffa, and M. G. G. Chagunda. "Joint genetic analysis for dairy cattle performance across countries in sub-Saharan Africa." South African Journal of Animal Science 50, no. 4 (October 29, 2020): 507–20. http://dx.doi.org/10.4314/sajas.v50i4.3.

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This study assessed the feasibility of across-country genetic evaluation of dairy cattle in sub-Saharan Africa where data on livestock production are scarce. Genetic parameters were estimated for the 305-day milk yield in the first lactation and across five lactations, for age at first calving and for interval between first and second calving. Estimated breeding values of individual animals for these traits were calculated. There were records from 2 333, 25 208, and 5 929 Holstein cows in Kenya, South Africa, and Zimbabwe, and 898 and 65134 Jersey cows from Kenya and South Africa. Genetic gain from sire selection within and across countries. was predicted Genetic links between countries were determined from sires with daughters that had records in two or more countries, and from common ancestral sires across seven generations on both the maternal and paternal sides of the pedigree. Each country was treated as a trait in the across-country evaluation. The results showed that genetic variance and heritability were not always estimable within country, but were significantly different from zero in the across-country evaluation. In all three countries, there was greater genetic gain in all traits from an across-country genetic evaluation owing to greater accuracy of selection compared with within country. Kenya stood to benefit most from an across-country evaluation, followed by Zimbabwe, then South Africa. An across-country breeding programme using joint genetic evaluation would be feasible, provided that there were genetic links across countries, and would provide a platform for accelerated genetic progress through selection and germplasm exchange between sub-Saharan African countries.Keywords: across-country genetic evaluation, genetic connectedness, genetic progress
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Doyle, Jennifer L., Christopher Carroll, Alison Corbally, and Alan G. Fahey. "34 A Comparison of International Genetic Evaluations of Show Jumping in Sport Horses." Journal of Animal Science 100, Supplement_3 (September 21, 2022): 6–7. http://dx.doi.org/10.1093/jas/skac247.010.

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Abstract The breeding of sport horses to compete in show jumping is fast becoming a global industry with the increased use of reproductive technologies, including artificial insemination and embryo transfer, facilitating the dissemination of genetics from elite horses across multiple countries and breeds. Due to this increased level of crossbreeding, there is an increased need for estimate breeding values for sport horse performance that can be compared across breeds and countries. However, the implementation of a cross-breed or across-country genetic evaluations has been limited by the differences in individual breeding programs and genetic evaluations in each studbook. Consequently, the aim of this study was to compare the genetic evaluations for show jumping of sport horse studbooks worldwide. An email was sent to the studbooks included in the World Breeding Federation for Sport Horses Studbook Rankings for show jumping in 2019 to request information on their current breeding programs and genetic evaluations. Twenty-six of the 51 studbooks contacted replied to this request. Only 18 of these studbooks conducted their own genetic evaluations or were part of a larger genetic evaluation in their country of origin. Overall, many differences were identified among the genetic evaluations of each studbook or each country. The definition of show jumping performance differed within each evaluation and the methods and models utilized also differed (Table 1). Despite some stallions and mares being registered in multiple studbooks or having progeny in multiple studbooks, these differences make comparison of estimated breeding values across studbooks difficult. Further transparency and collaboration of sport horse studbooks with organizations such as Interstallion, will be essential to facilitate any future implementation of international genetic evaluations for show jumping performance.
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Fitzmaurice, Shauna, Joanne Conington, Kevin McDermott, Noirin McHugh, and Georgios Banos. "Across‐country genetic evaluation of meat sheep from Ireland and the United Kingdom." Journal of Animal Breeding and Genetics 139, no. 3 (February 2022): 342–50. http://dx.doi.org/10.1111/jbg.12668.

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Meuwissen, T. H. E. "Developments in genetic evaluation: from test days to genomics." Proceedings of the British Society of Animal Science 2005 (2005): 237. http://dx.doi.org/10.1017/s1752756200011480.

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Genetic evaluations have come a long way during the past decades, where the development and implementation of Best Linear Unbiased Prediction (BLUP) was undoubtedly the most notable achievement. The most important advances during the past 10 years were probably the direct use of test-day data in the BLUP model, ie. test-day models, the correction for heterogeneous within herd variances, multiple across country genetic evaluations (MACE), and the inclusion of more and more functional, and often difficult, traits in the evaluations. This paper will review the developments in test-day models, and the future of the genetic evaluations field, namely the inclusion of genomic information in the evaluations.
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Salway, Sarah, Edanur Yazici, Nasaim Khan, Parveen Ali, Frances Elmslie, Julia Thompson, and Nadeem Qureshi. "How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise." BMJ Open 9, no. 7 (July 2019): e028928. http://dx.doi.org/10.1136/bmjopen-2019-028928.

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Objectives(1) To explore professional and lay stakeholder views on the design and delivery of services in the area of consanguinity and genetic risk. (2) To identify principles on which there is sufficient consensus to warrant inclusion in a national guidance document. (3) To highlight differences of opinion that necessitate dialogue. (4) To identify areas where further research or development work is needed to inform practical service approaches.DesignDelphi exercise. Three rounds and one consensus conference.SettingUK, national, web-based and face-to-face.ParticipantsRecruitment via email distribution lists and professional networks. 42 participants with varied professional and demographic backgrounds contributed to at least one round of the exercise. 29 people participated in statement ranking across both rounds 2 and 3.ResultsOver 700 individual statements were generated in round 1 and consolidated into 193 unique statements for ranking in round 2, with 60% achieving 80% or higher agreement. In round 3, 74% of statements achieved 80% or higher agreement. Consensus conference discussions resulted in a final set of 148 agreed statements, providing direction for both policy-makers and healthcare professionals. 13 general principles were agreed, with over 90% agreement on 12 of these. Remaining statements were organised into nine themes: national level leadership and coordination, local level leadership and coordination, training and competencies for healthcare and other professionals, genetic services, genetic literacy, primary care, referrals and coordination, monitoring and evaluation and research. Next steps and working groups were also identified.ConclusionsThere is high agreement among UK stakeholders on the general principles that should shape policy and practice responses in this area: equity of access, cultural competence, coordinated inter-agency working, co-design and empowerment and embedded evaluation. The need for strong national leadership to ensure more efficient sharing of knowledge and promotion of more equitable and consistent responses across the country is emphasised.
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Ilardi, Dawn, Jacqueline H. Sanz, Adam R. Cassidy, Renee Sananes, Caitlin K. Rollins, Catherine Ullman Shade, Gretchen Carroll, and David C. Bellinger. "Neurodevelopmental evaluation for school-age children with congenital heart disease: recommendations from the cardiac neurodevelopmental outcome collaborative." Cardiology in the Young 30, no. 11 (November 2020): 1623–36. http://dx.doi.org/10.1017/s1047951120003546.

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AbstractIn 2012, the American Heart Association and the American Academy of Paediatrics released a scientific statement with guidelines for the evaluation and management of the neurodevelopmental needs of children with CHD. Decades of outcome research now highlight a range of cognitive, learning, motor, and psychosocial vulnerabilities affecting individuals with CHD across the lifespan. The number of institutions with Cardiac Neurodevelopmental Follow-Up Programmes and services for CHD is growing worldwide. This manuscript provides an expanded set of neurodevelopmental evaluation strategies and considerations for professionals working with school-age children with CHD. Recommendations begin with the referral process and access to the evaluation, the importance of considering medical risk factors (e.g., genetic disorders, neuroimaging), and the initial clinical interview with the family. The neurodevelopmental evaluation should take into account both family and patient factors, including the child/family’s primary language, country of origin, and other cultural factors, as well as critical stages in development that place the child at higher risk. Domains of assessment are reviewed with emphasis on target areas in need of evaluation based on current outcome research with CHD. Finally, current recommendations are made for assessment batteries using a brief core battery and an extended comprehensive clinical battery. Consistent use of a recommended assessment battery will increase opportunities for research collaborations, and ultimately help improve the quality of care for families and children with CHD.
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Noble, Lara Dominique, Lesley Erica Scott, Riffat Munir, Mignon Du Plessis, Kim Steegen, Lucia Hans, Puleng Marokane, Pedro Da Silva, and Wendy Susan Stevens. "Rapid Evaluation of the Xpert ® Xpress CoV-2 plus and Xpert® Xpress CoV-2/Flu/RSV plus Tests." Diagnostics 13, no. 1 (December 22, 2022): 34. http://dx.doi.org/10.3390/diagnostics13010034.

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The Xpert® Xpress SARS-CoV-2 and Xpert® Xpress SARS-CoV-2/Flu/RSV tests were rapidly developed and widely used during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. In response to emerging genetic variability, a new SARS-CoV-2 target (RNA-dependent RNA-polymerase) has been added to both tests: Xpert® Xpress CoV-2 plus and Xpert® Xpress CoV-2/Flu/RSV plus test. A rapid evaluation of both tests was performed in South Africa, using residual respiratory specimens. Residual respiratory specimens (n = 125) were used to evaluate the Xpert® Xpress CoV-2 plus test and included 50 genotyped specimens. The Xpert® Xpress CoV-2/Flu/RSV plus test was assessed using 45 genotyped SARS-CoV-2 specimens, 10 influenza A, 10 influenza B and 20 respiratory syncytial virus specimens. Results were compared to in-country standard-of-care tests. Genotyped specimens tested the performance of the test under pressure from circulating SARS-CoV-2 variants of concern. Reference material was included to assess the test limits and linearity. The Xpert® Xpress CoV-2 plus test performance compared to reference results across residual respiratory specimens was good (positive percentage agreement (PPA) = 95.2%, negative percentage agreement (NPA) = 95.0%) The Xpert® Xpress CoV-2/Flu/RSV plus test showed good performance across all residual respiratory specimens (PPA = 100%, NPA = 98.3%). All genotyped variants of concern were detected by both tests. The Xpert® Xpress CoV-2 plus and Xpert® Xpress CoV-2/Flu/RSV plus tests can be used to diagnose SARS-CoV-2, and to diagnose and differentiate SARS-CoV-2, influenza A, influenza B and respiratory syncytial virus, respectively. The NPA was lower than the recommended 99%, but was influenced by the low number of negative specimens tested. The variants of concern assessed did not affect test performance. It is recommended that sites perform their own assessments compared to in-country standard-of-care tests.
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Abu-Zaitoun, Salam, Kottakota Chandrasekhar, Siwar Assili, Munqez Shtaya, Rana Jamous, Omar Mallah, Kamal Nashef, et al. "Unlocking the Genetic Diversity within A Middle-East Panel of Durum Wheat Landraces for Adaptation to Semi-arid Climate." Agronomy 8, no. 10 (October 21, 2018): 233. http://dx.doi.org/10.3390/agronomy8100233.

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Drought is the major environmental factor limiting wheat production worldwide. Developing novel cultivars with greater drought tolerance is the most viable solution to ensure sustainable agricultural production and alleviating threats to food-security. Here we established a core-collection of landraces and modern durum wheat cultivars (WheatME, n = 36), from the Middle East region (Jordan, Palestine and Israel) aiming at unlocking the genetic and morpho-physiological adaptation to semi-arid environment conditions. Interestingly, genetic analysis of the WheatME core-collection could not distinguish the landraces according to their country of origin. Field-based evaluation of the core-collection conducted across range of contrasting environmental conditions: Til-Palestine, Bet-Dagan-Israel and Irbid-Jordan with annual precipitation of 500 mm, 360 mm and 315 mm, respectively. The Til environment showed highest grain yield while the Irbid environment showed the lowest values. Analysis of variance showed a significant Genotype × Environment interaction for plant phenology traits (plant height and heading date) and productivity traits (1000-kernel weight, and grain yield). Principal component analysis showed three main cultivar groups: High yielding lines (modern durum cultivars, and landraces), tall late flowering landraces, and landraces with high grain weight. This knowledge could serve as basis for future breeding efforts to develop new elite cultivars adapted to the Mediterranean Basin’s semi-arid conditions.
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Mustafa, Hafiz, E. Ejaz-Ul-Hasan, Tariq Mahmood, Amir Hameed, and Qurban Ali. "Enhancing food security in arid areas of Pakistan through newly developed drought tolerant and short duration mustard (Brassica juncea L.) Canola." Genetika 50, no. 1 (2018): 21–31. http://dx.doi.org/10.2298/gensr1801021m.

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Food security is the crucial global issue, especially in developing countries like Pakistan. Since edible oil is an essential food item, its persistent paucity in the country and huge import for meeting domestic requirements, has attained it second largest import item after petroleum products. The aim of present study is qualitative and quantitative evaluation of newly developed short duration and drought tolerant canola quality Brassica juncea lines ZBJ-06012 and ZBJ-08051 to overcome the unfavorable edible oil situation in the country. Thirteen lines were evaluated in randomized complete block design (RCBD) for seed yield, oil quality, maturity period and drought tolerance under different agro-climatic zones both in irrigated and arid areas across the Punjab province at eight locations in Micro Yield Trials during Rabi season 2012-13 and 2013-14. Presently, grown non-canola mustard varieties Khanpur Raya and Anmol Raya were used as check varieties. Brassica napus cultivars Punjab canola and Faisal canola were also included in the trials for comparison study of mustard and rapeseed genotypes. Data for all traits under observation was analyzed through Principle Component Analysis (PCA) to evaluate the best performing lines in irrigated as well as in rain fed areas. Principal Component Analysis showed first 2 PCs having Eigen value >1 explaining 76.4% and 72% of the total variation at irrigated areas and rain fed areas respectively. The mean seed yield was also compared by Least Significant Difference (LSD) test to study the significance at 5% probability level. Canola quality B. juncea lines ZBJ-06012 and ZBJ-08051 have shown good adaptability, early maturity, non-shattering, disease and drought tolerance traits with high yield potential in comparison with presently grown Brassica napus cultivars ?Punjab Canola? and ?Faisal Canola?. Due to these prominent features, these lines have a great scope for motivating farmers to grow canola quality B. juncea when compared with B. napus and non-canola B. juncea. Future challenges demand further development of high yielding, short duration and aphid tolerant mustard cultivars having high oil content and canola quality. There is a great potential of exploiting genetic variability in the existing B. juncea material to achieve the aforesaid goals by using conventional plant breeding techniques.
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Arici, Z. S., M. Romano, D. Piskin, F. Guzel, M. Yilmaz, and E. Demirkaya. "POS1372 EVALUATION OF E148Q AND CONCOMITANT AA AMYLOIDOSIS SECONDARY TO FAMILIAL MEDITERRANEAN FEVER AFTER ADJUSTED CLINICAL-DEMOGRAPHIC CHARACTERISTICS." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 968.1–968. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3420.

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Background:Amyloid A (AA) amyloidosis, previously known as secondary or reactive amyloidosis, is a long-recognized severe complication of some chronic inflammatory diseases. The pathogenesis and risk factors for amyloidosis in Familial Mediterranean Fever (FMF) remain partially understood (1). The development of AA amyloidosis is dependent on ethnicity and country of residence (2). In the pre-colchicine era, renal AA-amyloidosis was largely reported patients of Turkish (67%) and Sephardic Jewish ancestry (26.5%) (2,3). Currently it’s well known that the MEFV M694V variant associated with high risk of amyloidosis however, mutations on exon 2, specifically E148Q variant remained controversial.Objectives:To evaluate the E148Q mutation variant and concomitant AA Amyloidosis secondary to FMF after adjusted clinical-demographic characteristics.Methods:Patients were recruited from the renal unit at Epigenetic Health Center outpatient clinic in Turkey between September 2003 and February 2020. Patients who had biopsy confirmed FMF related AA amyloidosis were included the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. The clinical characteristics of FMF patients and medication history were recorded by the physician at the time of registry entry. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. We performed multiple comparisons according to the age of diagnosis, demographic features, disease phenotype, allele frequency, type of mutation and mortality. Statistical analysis was performed with Statistical Package of Social Science (SPSS) for Windows, version 15.0 (SPSS Inc, Chicago, IL).Results:Our registry consists of 195 patients with a diagnosis of AA amyloidosis. Complete information on 169 patients (lost to follow up, n=26) were included. The median age was 36 (19-49) years; male/female ratio was 1.6 (104/65). The median follow-up duration was 15.0 years (4-17 years). There were 101 patients diagnosed with FMF <18 years of age and 68 patients diagnosed ≥18 years of age. All participants developed renal amyloidosis before the age of 32 years. Family history of FMF was documented in 56 patients (33.1%) and family history of amyloidosis was present in 41 patients (24.3%). The three most common clinical symptoms were fever (84,6%), abdominal pain (71.6%) and arthritis (66.9%). During the follow-up, 5 patients started dialysis treatment and 9 patients had kidney transplantation. The most common allele frequency across patients was M694V (60.6%), E148Q (21.4%) and M680I (10.3%). The most frequent mutations were M694V/M694V (63.3%), M694V/E148Q (20.8%) and E148Q/E148Q (15.8%). During the follow up period, 15 patients (10 male, 5 female) died. In those that died, the mutations in 14 had M694V/M694Vand one demonstrated E148Q/E148Q.Conclusion:Patients with FMF related AA amyloidosis have an increased risk for mortality. This study confirmed the association between M694V and FMF-associated AA amyloidosis, which has been reported in many studies. Close clinical follow-up and further evaluation of patients with the E148Q mutation is warranted specifically if residing in FMF endemic areas. The possible relationship between E148Q and AA amyloidosis need to be confirmed in other cohorts.References:[1]Erer B, Demirkaya E, Ozen S, Kallinich T. What is the best acute phase reactant for familial Mediterranean fever follow-up and its role in the prediction of complications? A systematic review. Rheumatology international. 2016;36(4):483-7.[2]Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis and rheumatism. 2007;56(5):1706-12.[3]Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J. 1982;150(1):22-6.Disclosure of Interests:None declared
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Mark, T., P. Madsen, J. Jensen, and W. F. Fikse. "Prior (Co)Variances Can Improve Multiple-Trait Across-Country Evaluations of Weakly Linked Bull Populations." Journal of Dairy Science 88, no. 9 (September 2005): 3290–302. http://dx.doi.org/10.3168/jds.s0022-0302(05)73012-5.

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Silveira, Douglas R. A., Lynn Quek, Anna Corby, Juan L. Coelho-Silva, Diego A. Pereira-Martins, Grant Vallance, Benjamin Brown, et al. "Combining Clinical Features with Genetic Factors Improves Survival Prediction for Adults with Acute Myeloid Leukemia: Validation of a New Score System in 3 Cohorts." Blood 134, Supplement_1 (November 13, 2019): 2602. http://dx.doi.org/10.1182/blood-2019-130726.

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Introduction: Risk stratification in acute myeloid leukemia (AML) is continually being refined as we learn more about the molecular pathophysiology of this heterogeneous disease. European LeukemiaNet (ELN) 2017 used widely to stratify the 'genetic' risk of AML, but there are considerable challenges in its application, particularly in centres where molecular genetic testing either not available, or not sufficiently timely for clinical decision making. Up to a third of the study subjects cannot be stratified using a full cytogenetic-molecular model in real-time, real-life setting. There are few attempts to combine clinical features and genetic factors aiming to find a scoring system to improve AML survival prediction. There is only one to our knowledge (Sorror ML et al. 2017). This study has generated an Adapted Genetic Risk (AGR) assessment, and used it in combination with clinical risk parameters to create a novel scoring system which has now been validated using two independent cohorts. Methods: A training cohort from São Paulo (FMUSP, n = 167) of intensively treated AML patients (18-65 years) was assessed using ELN2017 genetic criteria. A comparative validation with our AGR which permits missing cytogenetic or molecular data (Figure 1) split these patients into favorable-risk (FR), intermediate-risk (IR), and adverse-risk (AR). This cohort was also used for Cox Proportional-Hazard Model (CPHM) univariate and multivariate analysis to find clinical parameters that would inform a novel Survival AML Score (SAMLS). Variables which are included in SAMLS had to be either significant in both CPHM models or significant in univariate and crucial for multivariate fitness as measured for the Akaike Information Criterion (AIC). We then applied the AGR strategy and SAMLS to 2 independent test cohorts of intensively treated adult AML patients : Riberao Preto (FMRP, n=145) and Oxford (OUH, n=157). The study was approved by the institutional review boards of the 3 participating centers. Informed consent was obtained from all patients according to the Declaration of Helsinki. Results: Table 1 shows the clinical characteristics for all the 3 cohorts. The median follow-up (FUP) was 72.3, 44.4, and 70.5 months for FMUSP, FMRP, and OUH, respectively. The median Overall Survival (OS) was 12.4, 12.5, and 56.4 months and the 5-year OS were 29.6%, 29.7%, and 49.7% respectively. Both ELN2017 and AGR correlated with significant differences in OS (p-value <0.001) and DFS (ELN p=0.002, AGR p=0.003) in the FMUSP cohort. The ROC c-statistic were 0.68 (ELN) and 0.66 (AGR). AGR was validated in FMRP and OUH cohorts, with statistically significant stratification of OS across the 3 risk groups in both cohorts (FMRP p=0.03, OUH p=0.003); and DFS in FMRP (p = 0.04), but not in OUH (p = 0.7)(Table 2 and Figure 2). Multivariate CPHM model for OS in FMUSP which yielded the smallest AIC were: Age, HR 1.52; Albumin, HR 0.50; WBC, HR 1.37; Haemoglobin, HR 1.48; Platelet count, HR 0.64; and AGR-IR, HR 2.23 and AGR-AR HR, 4.66 (Figure 3). Variables which met SAMLS inclusion criteria are in Table 3. SAMLS stratifies AML as low-risk (LR-AML) (SAMS <=1.5) or high-risk (HR AML) (SAMLS >=2) (Table 3 and Figure 4 C-D), where there is a significant difference in survival in the FMUSP training cohort (p <0.001). The 5-year OS was 55% and 9% for LR and HR AML respectively. The ROC c-statistic for OS in FMUSP using SAMLS was 0.80 (21% bigger than using AGR only). SAMLS risk stratification was validated in both FMRP and OUH cohorts for OS (FMRP p-value 0.003, OUH p-value < 0.001) and DFS (p-value 0.04 OUH only). Prediction accuracy was also increased since ROC c-statistic was 0.65 for OS in FMRP (a 10% increase), and 0.77 in OUH (a 22% increase) (Figure 4). Conclusion: ELN2017 genetic risk score for AML was validated in a cohort from a low-medium income country (LMIC). AGR is a proposed risk evaluation that can be used for AML patients for whom fully genetic testing is not feasible (required for ELN2017) and was as accurate as ELN2017. AGR predicts survival in 3 independent cohorts, from LMIC and developed nation settings. When other biological and clinical factors are added to AGR, we were able to show SAMLS is better to predict overall survival than AGR. Importantly, serum Albumin, a simple and routine test parameter, was an independent predictor of OS for AML in all 3 cohorts. Therefore the use of SAMLS can predict early and late mortality and can impact on treatment decisions. Disclosures Quek: Celgene: Research Funding, Speakers Bureau; Agios: Research Funding. Vyas:Astellas: Speakers Bureau; Pfizer: Speakers Bureau; Abbvie: Speakers Bureau; Daiichi Sankyo: Speakers Bureau; Novartis: Research Funding, Speakers Bureau; Forty Seven, Inc.: Research Funding; Celgene: Research Funding, Speakers Bureau.
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Dao Thi Hong, Quyen, Mai Le Ngoc, Hong Do Thi, Mai Le Thi Tuyet, and Trung Trieu Anh. "Evaluation of general understanding on genetics subject of high school students." Journal of Science Educational Science 66, no. 4G (November 2021): 17–24. http://dx.doi.org/10.18173/2354-1075.2021-0166.

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Genetics is one of the important topics in the high school biology curriculum. Genetics has been taught in the subject of biology at grade 9 and grade 12. To investigate the general understanding of genetics of high school students, a survey was carried out and got responses from participants of 901 high school students across the country. The data for the average score was 3.3; median 3.0; scores ranging from 0.33 to 8.33. The data analyses showed that there was no significant difference in the results between urban and rural regions. The general knowledge of genetics of high school students was low. In general, scores of students in gifted schools were higher than in non-gifted schools. In the group of gifted schools, the biological group gave higher results than others. In general, the students tend to choose the subject Biology and have high average scores, also got survey scores higher than those of other groups. Those results contribute to clarifying the reality of learning Biology in general and Genetics in particular of high school students, contributing to the basis for educational administrators to provide more appropriate educational policies.
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Calzada, Jose E., Franklyn Samudio, Corina de Juncá, Vanessa Pineda, Barbara A. Burleigh, and Azael Saldaña. "Genetic Diversity of Trypanosoma cruzi in Panama Inferred by Multi-locus Sequence Typing of Mitochondrial Genes." Microorganisms 10, no. 2 (January 26, 2022): 287. http://dx.doi.org/10.3390/microorganisms10020287.

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The objective of this study was to provide information on Trypanosoma cruzi genetic diversity among isolates obtained from different biological sources circulating in endemic areas of Panama. Initial discrete typing units (DTUs) assignment was performed evaluating three single locus molecular markers (mini-exon, heat shock protein 60 and glucose-6-phosphate isomerase genes). Further diversity within TcI lineages was explored using a multi-locus sequence typing approach with six maxicircle genes. Haplotype network analysis and evolutionary divergency estimations were conducted to investigate the genetic relatedness between Panamanian TcI isolates and isolates from different endemic regions in the Americas. Our molecular approach validated that TcI is the predominant DTU circulating in Panama across different hosts and vector species, but also confirmed the presence of TcIII and TcVI circulating in the country. The phylogenetic tree topography for most Panamanian TcI isolates displayed a high level of genetic homogeneity between them. The haplotype network analysis inferred a higher genetic diversity within Panamanian TcI isolates, displaying eight different haplotypes circulating in endemic regions of the country, and revealed geographical structuring among TcI from different endemic regions in the Americas. This study adds novelty on the genetic diversity of T. cruzi circulating in Panama and complements regional phylogeographic studies regarding intra-TcI variations.
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Weigel, K. A., and R. L. Powell. "Retrospective Analysis of the Accuracy of Conversion Equations and Multiple-Trait, Across-Country Evaluations of Holstein Bulls used Internationally." Journal of Dairy Science 83, no. 5 (May 2000): 1081–88. http://dx.doi.org/10.3168/jds.s0022-0302(00)74972-1.

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Tarrés, J., Z. Liu, V. Ducrocq, F. Reinhardt, and R. Reents. "Validation of an Approximate REML Algorithm for Parameter Estimation in a Multitrait, Multiple Across-Country Evaluation Model: A Simulation Study." Journal of Dairy Science 90, no. 10 (October 2007): 4846–55. http://dx.doi.org/10.3168/jds.2007-0072.

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Liddicoat, Joy. "A country road: domain name disputes in .nz—is private dispute resolution working?" International Journal of Law and Information Technology 27, no. 4 (2019): 409–36. http://dx.doi.org/10.1093/ijlit/eaz013.

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Abstract Domain name dispute literature focuses largely on generic top level domains and the Uniform Dispute Resolution Policy. Country code top level domains (ccTLDs) attract far less commentary. This article addresses this gap with a detailed evaluation of one ccTLD dispute resolution system: .nz. Evaluation of domain name disputes presents unique challenges: there is no single system for resolving disputes, diverse legal tests apply across jurisdictions and categories of disputes vary. The article examines .nz in light of these challenges, developing and applying evaluation criteria to draw conclusions about the number and categories of disputes, resolution rates and overall effectiveness. The article analyses cases, including appeals, under the “unfair registration” test which contrasts with Nominet’s .uk dispute resolution policy on which the New Zealand system was closely modelled. The author concludes .nz operates a just and workable dispute resolution service that demonstrates effective and responsible ccTLD administration.
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Oliveira, Hinayah, Flavio Schenkel, Caeli M. R. Richardson, Filippo Miglior, and Luiz Brito. "PSVIII-19 Meta-analysis of genetic parameter estimates for feed efficiency traits in dairy cattle." Journal of Animal Science 97, Supplement_3 (December 2019): 271–72. http://dx.doi.org/10.1093/jas/skz258.551.

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Abstract Over 60% of the production costs in dairy cattle are related to feeding. Genetic selection for improved feed efficiency (FE) is a very promising alternative to reduce feeding costs, increase the industry profitability, and reduce the industry environmental footprints. The success of genetic selection relies in part on the heritability (h2) of the indicator traits included in the breeding programs. Several studies have reported h2 estimates for different FE indicator traits, with a broad range of estimates. To obtain more consistent h2 estimates across studies and populations, we performed a meta-analysis of published h2 estimates using four different groups of FE indicator traits commonly used in dairy cattle: 1) energy intake (EI); 2) residual feed intake (RFI); 3) feed (dry-matter) intake (FI); and 4) feed conversion efficiency (FCE). A comprehensive literature review identified 148 h2 estimates across 39 scientific papers from 13 different countries, published between 1991 and 2019. Thereafter, a meta-analysis based on random-effects model was used to summarize and address the variability of the parameter estimates. Our study confirmed that FE indicator traits in dairy cattle are under moderate genetic control. The h2 estimates were 0.18±0.02, 0.19±0.02, 0.29±0.01, and 0.19±0.03 for EI, RFI, FI, and FCE, respectively. In addition, our findings showed that h2 estimates for FE indicator traits in different studies have significant heterogeneity (I2 index estimated for EI, RFI, FI and FCE was 80.5%, 59.8%, 81.7%, and 55.7%, respectively). Among the possible sources of variation that contributed to the heterogeneity across studies are country, type of housing, life stage, and diet. The results reported here summarize the overall level of genetic control of FE in dairy cattle, which are useful for genetic evaluations when reliable h2 estimates for FE are not available in the studied dairy cattle population.
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Inusa, Baba PD, Corrina Macmahon, Laura Sainati, Raffaella Colombatti, Maddalena Casale, Patrizia Rampazzo, Silverio Perrotta, and Soundrie Padayachee. "An Educational Study Promoting the Delivery of TCD Screening in Paediatric Sickle Cell Disease: A European Multi-Centre Perspective." Blood 134, Supplement_1 (November 13, 2019): 2172. http://dx.doi.org/10.1182/blood-2019-130390.

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Background: Recent studies on the impact of migration on the geographical distribution of the HbS allele have highlighted sickle cell disease (SCD) as a global public health issue. Although considered a "rare disease" due to its global frequency in the 28 countries of the European Union, SCD is the most common genetic disease in France and the United Kingdom and its frequency is steadily rising in many other countries of central and southern Europe. At present, less than 50% of children with SCD have access to TCD screening in the USA and Europe. Most centers use the non-imaging approach, as described in the STOP trials, which is a "blind technique" where there is no guiding anatomical information and thus relies heavily on operator experience. Some centers now use imaging TCD which provides anatomical information enabling the Circle of Willis to be visualized and so facilitates identification of the basal cerebral arteries and orientation of the Doppler beam when acquiring blood velocities. The primary study objective was to determine the effectiveness of the modular training program in achieving the high level of scanning competency described in the STOP trial, irrespective of practitioner background and when using either non-imaging or imaging TCD. Methodology. The modular TCD training program was developed at the training center in London and delivered to trainees at all three centers (London-UK, Padova-Italy and Dublin, Ireland). The program comprised of a 2-day instructional course covering theory and practical aspects of TCD and incorporated significant hands-on instruction. This was followed by trainees scanning at their own hospital until they had collected a log book of at least 40 scans (within a one year period), after which a scan review and competency evaluation was performed. Results.Modular training program.Nine training courses were held (six in England, one in Ireland and two in Italy); these were attended by a total of 51 trainees (Table 1). Approximately half the trainees (45%) successfully completed the competency evaluation, 20 were still in training, two of whom had failed the assessment and eight withdrew from the program due to problems with local funding for staff or equipment. The ten trainees with an ultrasound background (clinical scientists) were able to acquire TCD skills rapidly as demonstrated by the high pass rate. The findings were more variable in the clinician group (pediatricians and nurses) with five requiring refresher courses and twelve failing to complete the minimum annual scan number (forty) due to small local sickle populations. Comparative analysis of TCD data obtained before and after training.A total of 555 patients were included in this study; 181 patients at Center 1 (52 males, mean age 7.9±3.8 (range 2-15.4 years), genotypes: 134 HbSS, 39 HbSC, 8 HbSβ thalassemia), 194 patients. Center 2 (53 males, mean age 7.4±3·2 (range 2-15.1 years), genotypes: 158 HbSS, 32 HbSC, 4 HbSβ) and 154 patients at Center 3 (50 males, mean age 6.4±3.5 (range 2-15.1 years), genotypes: 154 HbSS, 10HbSC, 16 HbSβ thalassemia). There was no significant difference in gender distribution (Chi-Square=0.313, p=0.85), but more young patients were recruited in Center 3 (ANOVA, F=8.9, p<0.001), more HbSC patients in Centers 1 and 2 and more Sβ thalassemia patients in Center 3 (Chi-Square=21.0, p<0.001).Conclusion: Diagnostic vascular ultrasound is highly operator-dependent; hence training and competency validation are essential in producing skilled TCD operators. The modular training program described here was effective in ensuring standardized TCD technique, irrespective of professional background. In this multi-center study TCD velocity measurements and STOP classification were consistent, irrespective of TCD mode and European country. We believe that this is the first modular training program that has demonstrated efficacy when delivered in different European countries. Delivery of this program in areas where TCD is under-provided will augment the number of trained TCD operators, thus facilitating access to specialist diagnostic services. This will have a significant impact on public health across Europe where SCD patients are increasing due to migration. Competency and quality assurance (QA) are important components of such a screening program; further work is in progress to develop an achievable QA program for ongoing regulation of this screening program. Disclosures Colombatti: AddMedica: Consultancy; Novartis: Consultancy; Global Blood Therapeutics: Consultancy.
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Fang, Shuyi, Kailing Li, Jikui Shen, Sheng Liu, Juli Liu, Lei Yang, Chang-Deng Hu, and Jun Wan. "GESS: a database of global evaluation of SARS-CoV-2/hCoV-19 sequences." Nucleic Acids Research 49, no. D1 (October 12, 2020): D706—D714. http://dx.doi.org/10.1093/nar/gkaa808.

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Abstract The COVID-19 outbreak has become a global emergency since December 2019. Analysis of SARS-CoV-2 sequences can uncover single nucleotide variants (SNVs) and corresponding evolution patterns. The Global Evaluation of SARS-CoV-2/hCoV-19 Sequences (GESS, https://wan-bioinfo.shinyapps.io/GESS/) is a resource to provide comprehensive analysis results based on tens of thousands of high-coverage and high-quality SARS-CoV-2 complete genomes. The database allows user to browse, search and download SNVs at any individual or multiple SARS-CoV-2 genomic positions, or within a chosen genomic region or protein, or in certain country/area of interest. GESS reveals geographical distributions of SNVs around the world and across the states of USA, while exhibiting time-dependent patterns for SNV occurrences which reflect development of SARS-CoV-2 genomes. For each month, the top 100 SNVs that were firstly identified world-widely can be retrieved. GESS also explores SNVs occurring simultaneously with specific SNVs of user's interests. Furthermore, the database can be of great help to calibrate mutation rates and identify conserved genome regions. Taken together, GESS is a powerful resource and tool to monitor SARS-CoV-2 migration and evolution according to featured genomic variations. It provides potential directive information for prevalence prediction, related public health policy making, and vaccine designs.
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Khoshnood, Babak, and Béatrice Blondel. "Regional Variations in Trends for Multiple Births: A Population-Based Evaluation in France, 1972–2003." Twin Research and Human Genetics 10, no. 2 (April 1, 2007): 406–15. http://dx.doi.org/10.1375/twin.10.2.406.

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AbstractThe aim of the study was to assess, using population-based data, trends and regional variations in multiple births during the period of increasing use and changes in practice patterns for infertility treatments. National data for 24,554,977 births (live births and stillbirths) were used, including 569,423 twins during the period 1972 to 2003, and 14,599 triplets for 1984 to 2003. Statistical analyses included age-adjusted hierarchical logistic regression models for twin births and separate analyses for triple, same-sex, and different-sex twin births. Due to confidentiality considerations, the only variable available for adjustment was maternal age. Regionallevel variations were estimated using median odds ratios based on random-intercept hierarchical logistic regression models. Overall, twin births increased from 18.1 per 1000 births (95% confidence interval [CI] 17.9–18.2) in 1972 to 1975 to 29.9 per 1000 (95% CI 29.7–30.1) in 2000 to 2003. Twin births increased progressively across all regions, whereas triple births reached a peak in the early 1990s and decreased thereafter. Trends for both twin and triple births varied significantly across regions. Both trends and regional variations were greater for different-sex as compared with same-sex twin births. Regional variations in the proportion of multiple births increased in the case of twin births and decreased for triple births. Differences in multiple births at the regional level in France were comparable to country-level differences observed across several western and northern European countries. Regional differences in multiple births need to be monitored and used to inform policies aimed at regulating the use of infertility treatments.
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Van Mierlo, L. D., R. Chattat, S. Evans, D. Brooker, F. L. Saibene, G. Gamberini, E. Farina, et al. "Facilitators and barriers to adaptive implementation of the Meeting Centers Support Program (MCSP) in three European countries; the process evaluation within the MEETINGDEM study." International Psychogeriatrics 30, no. 4 (November 17, 2017): 527–37. http://dx.doi.org/10.1017/s1041610217001922.

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ABSTRACTBackground:In the MEETINGDEM project, the Meeting Centers Support Program (MCSP) was adaptively implemented and evaluated in three European countries: Italy, Poland, and the United Kingdom. The aim of this study was to investigate overall and country-specific facilitators and barriers to the implementation of MCSP in these European countries.Methods:A qualitative multiple case study design was used. Based on the theoretical model of adaptive implementation, a checklist was composed of potential facilitators and barriers to the implementation of MCSP. This checklist was administered among stakeholders involved in the implementation of MCSP to trace the experienced facilitators and barriers. Twenty-eight checklists were completed.Results:Main similarities between countries were related to the presence of suitable staff, management, and a project manager, and the fact that the MCSP is attuned to needs and wishes of people with dementia and informal caregivers. Main differences between countries were related to: communication with potential referrers, setting up an inter-organizational collaboration network, receiving support of national organizations, having clear discharge criteria for the MCSP and continuous PR in the region.Conclusion:The results of this study provide insight into generic and country specific factors that can influence the implementation of MCSP in different European countries. This study informs further implementation and dissemination of MCSP in Europe and may also serve as an example for the dissemination and implementation of other effective psychosocial support interventions for people with dementia and their informal caregivers across and beyond Europe.
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Rodriguez-Perez, Dalina, Roger Moya, and Olman Murillo. "Effect of stem height in variation of bark, heartwood, sapwood and physical properties of wood in <i>Dipteryx panamensis</i> Pittier in a provenance/progeny test." Ciência Florestal 32, no. 1 (March 25, 2022): 141–62. http://dx.doi.org/10.5902/1980509843606.

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Dipteryx panamensis is used in reforestation in Costa Rica and a genetic improvement program has been recently started in the country. The objective of the present study was to study the effect of tree trunk height on the variation of bark, sapwood, heartwood, green density (GD), specific gravity (SG) and green moisture content in green condition (MC-G), in a collection of 8-year-old provenances/progenies planted in the town of Florencia in San Carlos in the northern region of Costa Rica The wood of each of 17 families were studied based on 3 of their progenies, evaluating the properties relative to 0, 25%, 50%, 75% and 100% of the commercial height. According to the results, tree diameter and bark thickness showed no statistical differences in their values across trunk. Significant differences were found in diameter and percentage of heartwood and sapwood between provenances and families. The thickness and percentage of sapwood, thickness and percentage of bark, diameter, pith percentage and percentage of pith eccentricity, showed no significant differences between families. SG and the MC-G presented significant variation between provenances, while GD registered differences at above 25 % commercial height. The variation of physical properties, especially SG, between families within each provenance, shows selection potential for genetic improvement, focusing particularly on the bottom section of the tree.
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Fouché, Ilse. "Impact measurement: quantitatively determining the improvement in students’ academic literacy levels at a South African university." Journal for Language Teaching 51, no. 1 (July 5, 2021): 163–99. http://dx.doi.org/10.4314/jlt.v51i1.7.

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Academic literacy interventions are becoming increasingly important in a country where the secondary education system no longer adequately prepares students for the literacy demands of higher education. This article investigates whether there was an improvementin students’ academic literacy levels between the onset and completion of an academic literacy module at a South African university. This is done by using a combination of instruments selected from a proposed evaluation design for academic literacy interventions, suggested by Fouché, Van Dyk and Butler (2016). A pre-test / post-test design is used, where, firstly, students’ results in a validated and reliable generic academic literacy test are considered. Secondly, students’ writing abilities are assessed by means of two instruments: a rubric and quantitative measures. Finally, students’ academic literacy marks are correlated to other variables, and interpreted within the context of the study, to give additional insight into the impact of the academic literacy course. Findings indicate that students showed an improvement across a wide array of academic literacy abilities, in particular their ability to use source material in their writing assignments, and their usage of a wider range of academic vocabulary. However, there were also areas where students did not display anyimprovement. Based on the experience of implementing various evaluation instruments, several recommendations are made on how future researchers could avoid pitfalls that were encountered in this study.
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Branchaw, Janet L., Amanda R. Butz, and Amber R. Smith. "Evaluation of the Second Edition of Entering Research: A Customizable Curriculum for Apprentice-Style Undergraduate and Graduate Research Training Programs and Courses." CBE—Life Sciences Education 19, no. 1 (March 2020): ar11. http://dx.doi.org/10.1187/cbe.19-04-0073.

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The second edition of Entering Research (ER) is a collection of customizable active-learning activities, resources, and assessment and evaluation tools for use in undergraduate and graduate research training programs and courses. Results from two design and development research studies examining the effectiveness of the second edition of the ER curriculum and a 2-day ER facilitator training workshop are reported. Pilot testing of the second edition of the curriculum at 20 sites across the country (42 unique implementations) with 78 facilitators and 565 undergraduate and graduate research trainees provides evidence that the ER activities are clear and complete and that they were effective in helping trainees gain knowledge or improve their ability to do research. Overall, research training program directors and trainees were satisfied with courses and workshops that incorporated activities from ER. Likewise, evaluation data from four ER facilitator training workshops showed that participants valued the workshop and reported significant gains in confidence in their ability to successfully develop and implement a custom ER curriculum. Together, these results provide evidence that the ER curriculum and training workshop warrant further efficacy, effectiveness, and scale-up research.
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Baxmann, Martin, Lan Huong Timm, and Falk Schwendicke. "Who Seeks Clear Aligner Therapy? A European Cross-National Real-World Data Analysis." Life 13, no. 1 (December 25, 2022): 65. http://dx.doi.org/10.3390/life13010065.

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A key step prior to clear aligner therapy (CAT) is the clinical examination and case selection, which includes understanding the specific orthodontic problem to be managed and the wider evaluation of oral health. Seeking CAT may further differ along sociodemographic parameters or across countries, as may perceived orthodontic treatment needs and oral health. We aimed to characterize patients seeking CAT across five European countries. Anonymized real-life data from one large CAT provider (DrSmile, Berlin, Germany) was retrospectively sampled for the period 1 November 2021–31 December 2021. A total of 15,015 patients (68.4% females, 31.6% males, with an age range of 18–81 years, median 30.0 years) were included. The cross-national comparison revealed a significant difference in gender distribution (p < 0.001/Chi-square), with the highest proportion of males in Italy (434/1199, 36.2%) and the lowest in Poland (457/1600, 28.6%); generally, more females sought CAT. The largest motivational factor in all countries for seeking CAT was crowding, in both males and females. By and large, patients paid out of pocket for CAT. The prevalence of caries, periodontitis, and craniomandibular dysfunction as well as the numbers of missing teeth were generally low, albeit with significant differences between sociodemographic groups and countries for caries and periodontitis. Patients seeking CAT showed a low prevalence in oral conditions but differed in their sociodemographic characteristics across countries. Dentists and orthodontists should consider these country-specific differences when planning CAT.
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Williams, R. M., L. O'Brien, H. A. Eagles, V. A. Solah, and V. Jayasena. "The influences of genotype, environment, and genotype×environment interaction on wheat quality." Australian Journal of Agricultural Research 59, no. 2 (2008): 95. http://dx.doi.org/10.1071/ar07185.

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Knowledge of the relative contributions of genotype (G), environment (E), and genotype and environment interaction (G × E) effects on wheat (Triticum aestivum L.) quality leads to more effective selection in breeding programs and segregation of more uniform parcels of grain better suited to the needs of customers. Their effects on wheat quality were reviewed using papers obtained from 4 major international databases. The literature is dominated by research from North America, with lesser contributions from Europe, Australia, and the rest of the world. Use of analysis of variance to partition sources of variation due to G, E, and G × E was the most common approach but, more recently, residual maximum likelihood methods that can accommodate large, but unbalanced, datasets have been used. In North America and Europe, the relative contributions of G, E, and G × E varied across studies, but traits associated with protein content were more influenced by E and G × E than those associated with protein quality, dough rheology and starch characteristics, where G effects were more important. Variation in the relative contributions of G, E, and G × E was highly dependent on the G and E sampled. The Australian studies were characterised by a relative lack of G × E, with G and E rankings being similar across the country for the protein quality, dough rheology, and starch quality traits examined in detail. This suggests that, in Australia, more efficient testing of potential cultivars will be possible for these traits, especially when the underlying variation at the gene level is known, and that efficiencies in the design and conduct of trial systems and quality evaluations could be achieved by testing samples from targetted environments without affecting genetic gain and overall crop quality.
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Steel, Michael, Elizabeth Smyth, Hans Vasen, Diana Eccles, Gareth Evans, Pål Møller, Shirley Hodgson, et al. "Ethical, Social and Economic Issues in Familial Breast Cancer: A Compilation of Views from the E.C. Biomed II Demonstration Project." Disease Markers 15, no. 1-3 (1999): 125–31. http://dx.doi.org/10.1155/1999/564893.

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Demand for clinical services for familial breast cancer is continuing to rise across Europe. Service provision is far from uniform and, in most centres, its evolution has been determined by local conditions, specifically by local research interests, rather than by central planning. However, in a number of countries there is evidence of progress towards co-ordinated development and audit of clinics providing risk assessment, counselling, screening and, in some cases, prophylactic intervention. Much important information should emerge from continued observation and comparative assessment of these developments.In most countries for which relevant data are available, there is a distinct bias towards higher social class among those who avail themselves of clinic facilities (in line with findings from many other health-promotion initiatives). This should be addressed when considering future organisation of clinical services.Molecular genetic studies designed to identify the underlying mutations responsible for familial breast cancer are not generally regarded as part of the clinical service and are funded through research grants (if at all). Economic considerations suggest that there is a case for keeping this policy under review.Familial cancers throw into sharp relief certain ethical and legal issues that have received much recent attention from government advisory bodies, patients’ representatives, professional commentators and the popular media. Two are of particular importance; first, the right to gain access to medical records of relatives, in order to provide accurate risk assessment for a given family member, versus the right to privacy in respect of personal medical information and, second, the obligation (or otherwise) to inform family members of their risk status if they have not actively sought that knowledge. The legal position seems to vary from country to country and, in many cases, is unclear. In view of pressures to establish uniform approaches to medical confidentiality across the EC, it is important to evaluate the experience of participants in this Demonstration Programme and to apply the principle of “non-malfeasance” in formulating regu-lations that should govern future practice in this field.Data on economic aspects of familial breast cancer are remarkably sparse and outdated. As evidence accrues on the influence of screening and intervention programmes on morbidity and mortality, there is a strong case for evaluating the cost-effectiveness of different models of service provision.
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Putrik, Polina, Sofia Ramiro, Monika Hifinger, Andras P. Keszei, Ihsane Hmamouchi, Maxime Dougados, Laure Gossec, and Annelies Boonen. "In wealthier countries, patients perceive worse impact of the disease although they have lower objectively assessed disease activity: results from the cross-sectional COMORA study." Annals of the Rheumatic Diseases 75, no. 4 (August 27, 2015): 715–20. http://dx.doi.org/10.1136/annrheumdis-2015-207738.

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ObjectivesTo investigate patterns in patient-reported and physician-reported disease outcomes in patients with rheumatoid arthritis (RA) from countries with different level of socioeconomic development.MethodsData from a cross-sectional multinational study (COMOrbidities in RA) were used. Contribution of socioeconomic welfare (gross domestic product (GDP); low vs high) of country of residence to physician-reported (tender joint count, swollen joint count (SJC), erythrocyte sedimentation rate, disease activity score based on 28 joints assessment (DAS28)-3v based on these three components and physician global assessment) and patient-reported (modified Health Assessment Questionnaire (mHAQ), patient global assessment and fatigue) disease outcomes was explored in linear regressions, adjusting for relevant confounders.ResultsIn total, 3920 patients with RA from 17 countries (30 to 411 patients per country) were included, with mean age of 56 years (SD13) and 82% women. Mean SJC varied between 6.7 (Morocco) and 0.9 (The Netherlands), mean mHAQ ranged between 0.7 (Taiwan) and 1.5 (The Netherlands). Venezuela had the lowest (1.7) and the Netherlands the highest score on fatigue (5.0). In fully adjusted models, lower GDP was associated with worse physician-reported outcomes (1.85 and 2.84 more swollen and tender joints, respectively, and 1.0 point higher DAS28-3v), but only slightly worse performance-based patient-reported outcome (0.15 higher mHAQ), and with better evaluation-based patient-reported outcomes (0.43 and 0.97 points lower on patient global assessment and fatigue, respectively).ConclusionsIn patients with RA, important differences in physician-reported and patient-reported outcomes across countries were seen, with overall a paradox of worse physician-reported outcomes but better patient-reported outcomes in low-income countries, while results indicate that these outcomes in multinational studies should be interpreted with caution. Research on explanatory factors of this paradox should include non-disease driven cultural factors influencing health.
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Liu, Ping, and Feng Zhao. "Analysis on the Influencing Factors and Training Strategies of Young Talents in Hospitals under the Background of Big Data." Computational and Mathematical Methods in Medicine 2022 (July 26, 2022): 1–7. http://dx.doi.org/10.1155/2022/6213592.

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Under the background of big data, young talents in hospitals across my country are constantly striving to exert their personal scientific research and technical capabilities in terms of scientific research performance. At the same time, it also exposed many problems that need to be solved urgently. Under the background of the new era, each hospital needs to exert and increase its training in terms of scientific research and technology research and the use of young talents. By building a scientific platform and establishing an effective scientific research performance evaluation management system, the backbone of outstanding young medical talents can be realized. In the context of big data, this paper studies and analyzes the influencing factors of hospital young talent scientific research and performance management. After the preliminary data collection work, the chi-square verification was carried out on the survey data of young medical scientific research talents. It is confirmed that the research conclusions based on big data have certain basis for improving the scientific research management level of each hospital based on the research conclusions, thus providing a certain theoretical basis for enhancing the scientific research performance of young talents in the hospital.
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Kouanda, Seni, Eunice Nahyuha Chomi, Caron Kim, Sothornwit Jen, Luis Bahamondes, Jose Guilherme Cecatti, Pisake Lumbiganon, et al. "Health systems analysis and evaluation of the barriers to availability, utilisation and readiness of sexual and reproductive health services in COVID-19-affected areas: a WHO mixed-methods study protocol." BMJ Open 12, no. 6 (June 2022): e057810. http://dx.doi.org/10.1136/bmjopen-2021-057810.

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IntroductionCOVID-19 has led to an unprecedented increase in demand on health systems to care for people infected, necessitating the allocation of significant resources, especially medical resources, towards the response. This, compounded by the restrictions on movement instituted may have led to disruptions in the provision of essential services, including sexual and reproductive health (SRH) services. This study aims to assess the availability of contraception, comprehensive abortion care, sexually transmitted infection prevention and treatment and sexual and gender-based violence care and support services in local health facilities during COVID-19 pandemic. This is a standardised generic protocol designed for use across different global settings.Methods and analysisThis study adopts both quantitative and qualitative methods to assess health facilities’ SRH service availability and readiness, and clients’ and providers’ perceptions of the availability and readiness of these services in COVID-19-affected areas. The study has two levels: (1) perceptions of clients (and the partners) and healthcare providers, using qualitative methods, and (2) assessment of infrastructure availability and readiness to provide SRH services through reviews, facility service statistics for clients and a qualitative survey for healthcare provider perspectives. The health system assessment will use a cross-sectional panel survey design with two data collection points to capture changes in SRH services availability as a result of the COVID-19 epidemic. Data will be collected using focus group discussions, in-depth interviews and a health facility assessment survey.Ethics and disseminationEthical approval for this study was obtained from the WHO Scientific and Ethics Review Committee (protocol ID CERC.0103). Each study site is required to obtain the necessary ethical and regulatory approvals that are required in each specific country.
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Bennett, S., H. A. Zangi, A. Van Tubergen, and M. Ndosi. "OP0157-HPR DISSEMINATION AND ASSESSING IMPLEMENTATION OF THE EULAR RECOMMENDATIONS FOR PATIENT EDUCATION FOR PEOPLE WITH INFLAMMATORY ARTHRITIS ACROSS EUROPE." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 99. http://dx.doi.org/10.1136/annrheumdis-2020-eular.3251.

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Background:EULAR recommendations for patient education for people with inflammatory arthritis (IA) were published in 2015.1This is the first systematic dissemination and implementation study, reporting qualitative data identifying barriers to implementation of the recommendations.Objectives:To (i) disseminate and assess the level of acceptability and applicability of the EULAR recommendations for patient education among healthcare professionals and rheumatologists and (ii) assess potential barriers and facilitators to their application in clinical practice.Methods:This was a cross-sectional study using survey methods. Survey items were developed in English and translated into 20 different languages before being distributed to health professionals by snowball sampling using an online platform. The items covered demographic information and 10-point rating scales assessing the level of acceptability and applicability of each of the eight recommendations. In addition, textual data fields were provided to assess reasons for disagreeing and barriers to implementation of the recommendations in practice. Quantitative data were analysed descriptively with agreement and applicability levels summarised as median (IQR) scores. Textual data were analysed by content analysis and presented in themes. Finally, collaborators in each country reviewed the top barriers to implementation and proposed facilitators to implementation in their respective countries.Results:A total of 2442 responses were recorded from 23 countries, but only 1495 contained complete data. Of complete responses, 74% were women. Most of the professionals were nurses (n=640), rheumatologists (n=369) and physiotherapists (n=232).Table 1 presents the levels of agreement and applicability of the recommendations. For all recommendations, the level of agreement was high (median=10). However, the level of applicability was generally lower compared to each corresponding agreement level, especially for recommendation 6, which states that the effectiveness of patient education should be evaluated. Lack of an effective evaluation tool was the biggest barrier to implementation.Table 1.Levels of agreement and applicability of each recommendation.AgreementApplicabilityMedianIQRMedianIQRRecommendation 11010 to 1087 to 10Recommendation 21010 to 1086 to 10Recommendation 3109 to 1087 to 10Recommendation 4108 to 1075 to 10Recommendation 5108 to 1075 to 9Recommendation 6108 to 1064 to 8Recommendation 7109 to 1085 to 8Recommendation 81010 to 1085 to 8There were notable similarities between barriers and facilitators for implementation of the recommendations across countries. The 3 most common barriers to application were; (i) lack of time (ii) lack of training in how to provide patient education and (iii) not having enough staff to provide patient education. The most common facilitators were: tailoring the content and delivery of patient education to individual patients; training providers, and evaluating the effectiveness of patient education with individual patients.Conclusion:This project has disseminated the EULAR recommendations for patient education across 23 countries. There was high agreement with the recommendations among health professionals but their application to clinical practice was lower. Some barriers to application are amenable to change such as addressing training needs of health professionals and developing evaluation tools for patient education.Figure 1.Recommendations for patient education in inflammatory arthritis.1References:[1]Zangi HA, et al. EULAR recommendations for patient education for people with inflammatory arthritisAnn Rheum Dis. 2015;74:954-962.Disclosure of Interests:Sarah Bennett: None declared, Heidi A. Zangi: None declared, Astrid van Tubergen Consultant of: Novartis, Mwidimi Ndosi Grant/research support from: Bristol Myers Squibb, Consultant of: Janssen, Pfizer
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Christopher, Heavenlight Hebron, Adam Burns, Emmanuel Josephat, Sephord Saul, Josephine Mgaya, Julie Makani, Siana Watoky Nkya, and Anna Schuh. "Evaluation of Newborns Screening Laboratory Tests for Sickle Cell Disease and Other Haemoglobinopathies in Tanzania." Blood 134, Supplement_1 (November 13, 2019): 4817. http://dx.doi.org/10.1182/blood-2019-129900.

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Affiliation 1Muhimbili University of Health and Allied Sciences, Dar es salaam, Tanzania. 2Department of Oncology, University of Oxford, Oxford UK. 3Dar es salaam University College of Education, Dar es salaam, Tanzania. ABSTRACT. Background; SCD constitutes to be a major public health problem in Tanzania. NBS for SCD identify infants with SCD at birth and subsequently enroll them into SCD comprehensive care program and it has been reported to reduce early childhood mortality and morbidity due to SCD and increase life expectancy. There are different methods for Newborn screening for SCD such as HPLC, IEF, DNA analysis, sickle scan and hemotype SC that helps in early detection of SCD and other haemoglobinopathies but we are lacking sufficient information on alternative screening methods that can be used for NBS in Tanzania so this study is aiming at investigating the effectiveness and feasibility of NBS laboratory tests. Aim of the study; To evaluate newborn screening Laboratory assays for sickle cell disease and other haemoglobinopathies in Tanzania. Methodology; This will be a retrospective and prospective study which will be conducted in Dar es Salaam and Mwanza.1000 newborns and 100 children with SCD under five years old will be enrolled. DBS samples will be collected and analyzed by DNA Analysis, sickle scan, Hemotype SC, HPLC, and IEF. SPSS version 16.0 will be used to analyze data. Statistically, significant tests will be declared at a level of p-value < 0.05. Progress: Initially we have conducted a pilot of 12 individuals who were screened for SCD and turned out to be carriers ( Hb AS). However these individuals continuously reported to experience painful events. Initial analysis has include Hb subtyping and quantification by HPLC,Sickle scan and HemotypeSC to ascertain indicator for thalassaemia syndrome. Definitive analysis involved sequencing of thalassaemia and SCD associated regions by using Oxford Nanopore Technology and NGS Expected outcomes; The findings of this study will inform Newborn screening stakeholders on the best point of care screening test and definitive test, in terms of turnaround time and cost. Such findings will assist in planning and scaling up of newborn screening services across the country. Corresponding Author; HChristopher, Email; hchristopher@blood.ac.tz, Tel; +255762175732. Disclosures Schuh: AbbVie: Consultancy, Speakers Bureau; Genentech: Consultancy, Speakers Bureau; Pharmacyclics: Consultancy, Speakers Bureau; Kite: Speakers Bureau; Gilead: Speakers Bureau; Seattle Genetics: Speakers Bureau; Jazz Pharmaceuticals: Speakers Bureau; Bristol-Myers Squibb: Research Funding; Janssen: Speakers Bureau; Verastem: Speakers Bureau.
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Ali Albsheer, Musab M., Andrew A. Lover, Sara B. Eltom, Leena Omereltinai, Nouh Mohamed, Mohamed S. Muneer, Abdelrahim O. Mohamad, and Muzamil Mahdi Abdel Hamid. "Prevalence of glucose-6-phosphate dehydrogenase deficiency (G6PDd), CareStart qualitative rapid diagnostic test performance, and genetic variants in two malaria-endemic areas in Sudan." PLOS Neglected Tropical Diseases 15, no. 10 (October 26, 2021): e0009720. http://dx.doi.org/10.1371/journal.pntd.0009720.

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Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is the most common enzymopathy globally, and deficient individuals may experience severe hemolysis following treatment with 8-aminoquinolines. With increasing evidence of Plasmodium vivax infections throughout sub-Saharan Africa, there is a pressing need for population-level data at on the prevalence of G6PDd. Such evidence-based data will guide the expansion of primaquine and potentially tafenoquine for radical cure of P. vivax infections. This study aimed to quantify G6PDd prevalence in two geographically distinct areas in Sudan, and evaluating the performance of a qualitative CareStart rapid diagnostic test as a point-of-care test. Blood samples were analyzed from 491 unrelated healthy persons in two malaria-endemic sites in eastern and central Sudan. A pre-structured questionnaire was used which included demographic data, risk factors and treatment history. G6PD levels were measured using spectrophotometry (SPINREACT) and first-generation qualitative CareStart rapid tests. G6PD variants (202 G>A; 376 A>G) were determined by PCR/RFLP, with a subset confirmed by Sanger sequencing. The prevalence of G6PDd by spectrophotometry was 5.5% (27/491; at 30% of adjusted male median, AMM); 27.3% (134/491; at 70% of AMM); and 13.1% (64/490) by qualitative CareStart rapid diagnostic test. The first-generation CareStart rapid diagnostic test had an overall sensitivity of 81.5% (95%CI: 61.9 to 93.7) and negative predictive value of 98.8% (97.3 to 99.6). All persons genotyped across both study sites were wild type for the G6PD G202 variant. For G6PD A376G all participants in New Halfa had wild type AA (100%), while in Khartoum the AA polymorphism was found in 90.7%; AG in 2.5%; and GG in 6.8%. Phenotypic G6PD B was detected in 100% of tested participants in New Halfa while in Khartoum, the phenotypes observed were B (96.2%), A (2.8%), and AB (1%). The African A- phenotype was not detected in this study population. Overall, G6PDd prevalence in Sudan is low-to-moderate but highly heterogeneous. Point-of-care testing with the qualitative CareStart rapid diagnostic test demonstrated moderate performance with moderate sensitivity and specificity but high negative predicative value. The two sites harbored primarily the African B phenotype. A country-wide survey is recommended to understand GP6PD deficiencies more comprehensively in Sudan.
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Mohammad, Dahiru Sale, and Sarimah Ismail. "Comparative Analysis Between Nigeria and Malaysia Education Policies and Employability Skills in Tvet Curriculum." Open Journal of Science and Technology 2, no. 2 (October 19, 2019): 1–5. http://dx.doi.org/10.31580/ojst.v2i2.912.

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Nigeria and Malaysia have almost similar historical background; both had sultan as spiritual and government leader in their major areas, colonized by British and got independence in 1960 and 1957 respectively. Presently, Malaysia has recorded human development increments from 1980 to date and aspire to be a developed country in 2020. While Nigeria has recorded poverty increments from 1980 to date and it may likely be among underdeveloped countries in 2020. The purpose of this study was to make judgments about Technical and Vocational Education and training (TVET) systems of Malaysia and Nigeria. The idea was to see what makes Malaysian system successful and how Nigeria addressed its TVET problems. The methodology employed in this paper was analytical method of study that involved evaluation based on critical reading and review of materials which include Nigeria and Malaysia education philosophies, policies, TVET curriculums, employability skills, Malaysian Human Development Index and Nigeria’s Poverty Incidence. Findings revealed that education philosophy and education policy of Malaysia is intellectually, spiritually, emotionally and physically balanced based on firm belief and devotion to God while Nigerian education philosophy and policy are limited to intellectual and physical development. Malaysia TVET curriculum is equipped with employability skills including core skills, generic skills and personal attributes which are likely contributed to Malaysian human development and full employment of TVET graduates. Malaysia has recorded increments in human and economic developments from 1980 to date while Nigeria TVET curriculum has not been integrated with employability skills which are likely contributed to Nigeria’s poverty incidence and high Nigerian unemployment rate across all educational levels including TVET graduates at both secondary and tertiary levels. Nigeria has recorded steady increase of poverty incidence from 1980 to date.
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López-Ballesteros, Ana, Aoife Delaney, James Quirke, Jane C. Stout, Matthew Saunders, James C. Carolan, Blánaid White, and Dara A. Stanley. "Assessing availability of European plant protection product data: an example evaluating basic area treated." PeerJ 10 (July 13, 2022): e13586. http://dx.doi.org/10.7717/peerj.13586.

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Besides the benefits of plant protection products (PPPs) for agricultural production, there is an increasing acknowledgement of the associated potential environmental risks. Here, we examine the feasibility of summarizing the extent of PPP usage at the country level, using Ireland as a case study, as well as at the European level. We used the area over which PPPs are applied (basic area) as an example variable that is relevant to initially assess the geographic extent of environmental risk. In Irish agricultural systems, which are primarily grass-based, herbicides fluroxypyr and glyphosate are the most widely applied active substances (ASs) in terms of basic area, followed by the fungicides chlorothalonil and prothioconazole that are closely associated with arable crops. Although all EU countries are subject to Regulation (EC) No 1185/2009, which sets the obligation of PPP usage data reporting at the national level, we only found usable data that met our criteria for Estonia, Germany, Finland, and Spain (4 of 30 countries reviewed). Overall, the most widely applied fungicide and herbicide in terms of basic area were prothioconazole (20%, 7% and 5% of national cultivated areas of Germany, Estonia and Ireland) and glyphosate (11%, 8% and 5% of national cultivated areas of Spain, Estonia and Ireland) respectively, although evaluations using application frequency may result in the observation of different trends. Several recommendations are proposed to tackle current data gaps and deficiencies in accessibility and usability of pesticide usage data across the EU in order to better inform environmental risk assessment and promote evidence-based policymaking.
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Scher, Mark S. "A Bio-Social Model during the First 1000 Days Optimizes Healthcare for Children with Developmental Disabilities." Biomedicines 10, no. 12 (December 19, 2022): 3290. http://dx.doi.org/10.3390/biomedicines10123290.

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Most children with developmental disabilities (DD) live in resource-limited countries (LMIC) or high-income country medical deserts (HICMD). A social contract between healthcare providers and families advocates for accurate diagnoses and effective interventions to treat diseases and toxic stressors. This bio-social model emphasizes reproductive health of women with trimester-specific maternal and pediatric healthcare interactions. Lifelong neuronal connectivity is more likely established across 80% of brain circuitries during the first 1000 days. Maladaptive gene-environment (G x E) interactions begin before conception later presenting as maternal-placental-fetal (MPF) triad, neonatal, or childhood neurologic disorders. Synergy between obstetrical and pediatric healthcare providers can reduce neurologic morbidities. Partnerships between healthcare providers and families should begin during the first 1000 days to address diseases more effectively to moderate maternal and childhood adverse effects. This bio-social model lowers the incidence and lessens the severity of sequalae such as DD. Access to genetic-metabolomic, neurophysiologic and neuroimaging evaluations enhances clinical decision-making for more effective interventions before full expression of neurologic dysfunction. Diagnostic accuracy facilitates developmental interventions for effective preschool planning. A description of a mother-child pair in a HIC emphasizes the time-sensitive importance for early interventions that influenced brain health throughout childhood. Partnership by her parents with healthcare providers and educators provided effective healthcare and lessened adverse effects. Effective educational interventions were later offered through her high school graduation. Healthcare disparities in LMIC and HICMD require that this bio-social model of care begin before the first 1000 days to effectively treat the most vulnerable women and children. Prioritizing family planning followed by prenatal, neonatal and child healthcare improves wellness and brain health. Familiarity with educational neuroscience for teachers applies neurologic diagnoses for effective individual educational plans. Integrating diversity and inclusion into medical and educational services cross socioeconomic, ethnic, racial, and cultural barriers with life-course benefits. Families require knowledge to recognize risks for their children and motivation to sustain relationships with providers and educators for optimal outcomes. The WHO sustainable development goals promote brain health before conception through the first 1000 days. Improved education, employment, and social engagement for all persons will have intergenerational and transgenerational benefits for communities and nations.
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Sahiratmadja, Edhyana, Ani Melani Maskoen, Lelani Reniarti, and Delita Prihatni. "Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State." Indonesian Biomedical Journal 14, no. 3 (September 8, 2022): 282–8. http://dx.doi.org/10.18585/inabj.v14i3.1960.

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BACKGROUND: Being located in the global thalassemia belt area, Indonesia is estimated harboring about 10% thalassemia carriers; however, screening program is still diversely scattered across the country. Numerous erythrocyte indices have been introduced to help identifying thalassemia carriers with contradictory results. Therefore, this study had compared the use of mean corpuscular volume (MCV) and/or mean corpuscular hemoglobin (MCH) values and the most erythrocyte indices used in Indonesia which were Mentzer Index (MI) and Shine & Lal Index (SLI), as a first attempt in a mass screening for β-thalassemia carrier.METHODS: This was a retrospective study, evaluating laboratory data from family members of thalassemia major subjects. The sensitivity and specificity of MI and SLI were calculated. HbA2 >3.5% was used as a golden standard for β-thalassemia carrier and DNA examination was conducted to confirm β-globin mutation.RESULTS: Out of 160, 28.8% of the subjects had low Hb concentration. Interestingly, 79.4% of the subjects had low MCV and/or MCH with or without low Hb concentration. In this study, specificity and sensitivity of MI were 82.2% and 83.8%, whereas of SLI were 96% and 40.5%, respectively. Low MCV and/or MCH had covered IVS1nt5 and Cd26 mutation at β-globin gene; whereas MI and SLI had missed some samples, leading to false negative of thalassemia carrier results, when using MI or SLI only.CONCLUSION: MCV<80 fl and/or MCH<27 pg is the best first round mass screening method for β-thalassemia carrier in a limited facility area. However, Hb electrophoresis should be gradually installed regionally in various places wherever possible, as well as DNA analysis to confirm the mutation for an optimal carrier diagnosis.KEYWORDS: HbA2, HbE, iron deficiency anemia, Mentzer Index, Shine and Lal Index
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Njeru, C., and A. Migowa. "AB0993 A CASE SERIES OF KAWASAKI DISEASE FROM KENYA." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1790.3–1790. http://dx.doi.org/10.1136/annrheumdis-2020-eular.6345.

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Background:Kawasaki disease (KD) has been described across the globe, including the African continent, but none yet from Kenya.Objectives:To describe the clinical features and management strategies of pediatric patients diagnosed with Kawasaki Disease at a tertiary referral hospital in Kenya.Methods:A retrospective chart review was undertaken for the period January 2013 to December 2017 for all pediatric patients admitted at Aga Khan University Hospital Nairobi, Kenya. All medical records with a discharge diagnosis of Kawasaki disease were reviewed, de-identified and data extracted using a data collection tool.Results:Among the 15 cases identified, 8 (53%) had complete KD. The mean age was 1 year 10 months with a slight increase in males (53.3%). The mean duration of symptoms at diagnosis was 7.2 days (range 1-11 days). Fourteen patients (93.3%) received both intravenous immunoglobulin and aspirin but dosing varied from high dose aspirin (80-90 mg/kg/day) to low dose aspirin (3 mg/kg/day). Baseline cardiac evaluations were done among these 14 (93.3%) and one patient was found to have bilateral dilated coronaries. Only 5 patients (33.3%) had repeat echo examinations within 6 weeks after diagnosis all of which were normal.Conclusion:The challenges faced in the management of KD in Kenya include awareness of the disease, access and expertise to pediatric echocardiography, follow-up, access and cost of IVIG. Increasing awareness and improving health care resources is important in improving outcomes of KD in Kenya.Keywords: Kawasaki Disease, Pediatric Rheumatology, Kenya, Global Health, VasculitisReferences:[1]McCrindle BW, Rowley AH, Newburger JW, Burns JC, Bolger AF, Gewitz M, Baker AL, Jackson MA, Takahashi M, Shah PB, Kobayashi T, Wu MH, Saji TT, Pahl E. Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association. Circulation. 2017;135(17):e927-e999.[2]Kawasaki T. Acute febrile mucocutaneous syndrome with lymphoid involvement with specific desquamation of the fingers and toes in children. Arerugi (Japanese) 1967;16:178–222.[3]Singh S, Sharma A, Jiao F. Kawasaki Disease: Issues in Diagnosis and Treatment – A Developing Country Perspective. Indian J Pediatr 2016:83(2):140–145.[4]Scuccimarri R. Kawasaki Disease. Pediatr Clin N Am 2012; 59:425–445.Disclosure of Interests:None declared
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Malik, Saad Ullah, Zachary Braunstein, Sumithira Vasu, Sam Penza, Ayman Saad, Nathan Denlinger, Marcos J. G. de Lima, et al. "Cardiac Arrhythmias and Mortality after Hematopoietic Stem Cell Transplant (HSCT): A Systematic Review and Meta-Analysis." Blood 138, Supplement 1 (November 5, 2021): 2918. http://dx.doi.org/10.1182/blood-2021-152223.

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Abstract Introduction Hematopoietic stem cell transplant (HSCT) is commonly performed for the treatment of advanced hematological malignancies. Emerging data suggest non-relapse related events, including cardiac arrhythmias, increasingly limit anticancer outcomes and non-relapse mortality after initially successful HSCT. Yet, the relationship between HSCT and increased risk of arrhythmias after transplant remains controversial and unclear. Our aim was to evaluate the incidence and effect on mortality risk of arrhythmia development after HSCT. Materials and methods Leveraging the PubMed, Embase, Cochrane, Scopus and Clinicaltrials.gov databases, we identified all published studies evaluating the incidence and impacts of early arrhythmias after HSCT from January 1995 to July 2021 using PRISMA guidelines. We included all available observational studies (case-control, and cohort) and clinical trials without restriction of language or country of publication. The primary outcome was incidence of atrial fibrillation (AF) at 1 year of follow-up after HSCT. Secondary outcomes included the incidence of any arrhythmia across follow-up, the incidence of left atrium (LA) dilation, and non-relapse mortality associated with HSCT induced AF. Subgroup analysis based on type of HSCT treatment employed, allogenic (Allo-HSCT) or autologous (Auto-HSCT), was also performed. Variance weighted random effects modeling (DerSimonian and Laird) was used to define the associations between HSCT and AF and mortality events. Outcomes were reported as event rates, and relative risks (RR). Medians were reported with corresponding standard errors (SE). Heterogeneity was assessed using Cochrane Q-statistic which was quantified with I 2test (&gt;75% was considered high heterogeneity). Publication bias was assessed using Eager's test where applicable. Further, the quality of included studies was assessed using the New-Castle Ottawa scale. Results Overall, from 769 articles, 12 cohort studies inclusive of 6,371 patients meeting study-criteria were identified. The mean incidence of AF was 8.8% (I 2:97%, P&lt;0.001), including 5.2% (I 2:65%, P=0.05) within 1-year of any HSCT. The overall incidence of any type of arrhythmia was 11.2% (I 2 =95%, P≤0.001); Figure. Median time to AF onset was 10.3 days (SE= 1.2), but was longer in those treated with Allo-HSCT, at 71 days (SE=68.4); P&lt;0.05. Among those treated with Allo-HSCT, 8.2% (I 2:73%, P&lt;0.001) developed AF, including 6.5% (I 2:72%, P&lt;0.01) at 1 year; the event rate for any type of arrhythmia was 8.3% (I 2:52%, P&lt;0.001). In those treated with Auto-HSCT, the rate of AF was 8.7% (I 2=97%, P≤0.001) across follow-up. Among those with AF following HSCT therapy, LA dilatation was observed in 37.2% (I 2 =61.5%, P=0.1) among available studies. Similarly, mortality was higher among patients who developed AF vs. those without AF after HSCT (RR: 7.4, P=0.008, I 2 = 92.87). There was low risk of publication bias as assessed by visual inspection of funnel plot and Egger's regression test (P= 0.21); and low risk of bias within the included studies. Conclusion Atrial fibrillation is increasingly common after HSCT therapy, and associates with increased mortality. The presence of LA remodeling, reflected by atrial dilation, appears to portend AF risk. Further research into the mechanisms and predictors of AF after HSCT are needed. Figure 1 Figure 1. Disclosures Vasu: Kiadis, Inc.: Research Funding; Boehringer Ingelheim: Other: Travel support; Seattle Genetics: Other: travel support; Omeros, Inc.: Membership on an entity's Board of Directors or advisory committees. Saad: Incyte Pharmaceuticals: Consultancy; careDx: Consultancy; Amgen: Research Funding; Kadmon: Research Funding; OrcaBio: Research Funding; Magenta Therapeutics: Consultancy. de Lima: Miltenyi Biotec: Research Funding; BMS: Membership on an entity's Board of Directors or advisory committees; Pfizer: Membership on an entity's Board of Directors or advisory committees; Incyte: Membership on an entity's Board of Directors or advisory committees. Jaglowski: Juno: Consultancy; Novartis: Consultancy, Research Funding; Kite, a Gilead Company: Consultancy, Research Funding; Takeda: Consultancy; CRISPR Therapeutics: Consultancy.
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Mease, P. J., V. Strand, D. Furst, E. Siegel, M. Mcilraith, M. E. Husni, and M. C. Hay. "AB0966 Are Current Patient Reported Outcomes Tools Optimized to Capture the Entire Patient Experience?" Annals of the Rheumatic Diseases 81, Suppl 1 (May 23, 2022): 1610. http://dx.doi.org/10.1136/annrheumdis-2022-eular.5325.

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BackgroundPsoriatic Arthritis (PsA) affects multiple attributes of patient health; to assess treatment effectiveness a compilation of Patient Reported Outcomes (PRO) have been utilized. While useful, most of these were originally created for other diseases and only later validated or adapted for use in PsA. More recent efforts have focused on development of PsA specific PRO tools, with inclusion of patient input and relevance for use in both clinical research and clinical care (1).ObjectivesTo subject a broad set of currently used PROs to patient assessment, giving insight into usefulness in the clinic and informing efforts for optimization of PsA PROs.MethodsFour focus groups were conducted across three regionally-diverse areas in the United States from March 2016 to October 2016. Patients represented a range of disease history, symptoms, and severity. After trained facilitators encouraged open conversation about PsA, including symptoms, challenges and feelings about disease and treatment, patients reviewed 13 currently utilized PROs and rated relevance of these instruments to reporting their disease experiences on a 3 point scale of Relevant, Somewhat Relevant, and Irrelevant. Verbal discussion followed on the merits and challenges of each rated PROResultsPRO instruments ranged from overall global assessments to disease specific assessments (Table 1). The PROs received a variety of ratings, with Functional Assessment of Chronic Illness Therapy - Fatigue (FACIT-F) and Psoriatic Arthritis Impact of Disease (PsAID) judged as Very Relevant by the largest number of patients, followed by Health Assessment Questionnaire-Spondyloarthropathies (HAQ-S) and Pain VAS (Figure 1). Instruments receiving the most assessments of Not Really Relevant were Pt Global and PsA Quality of Life (PsAQOL). In the qualitative portion of the research, major patient critiques across PROs were the time frames listed on the questionnaires; some were too restrictive and disallowed reporting important recent disease activity. Preferences were for questions asked as ‘..since your last visit..’. Multiple participants also agreed that a visual tool allowing patients to circle specific joints to indicate pain would be useful.Table 1.Outcomes Instruments Assessed in the StudyToolAbbreviationTime Period QueriedPatient GlobalPt GANone SpecifiedPain Visual Analog ScalePain VASIn the past weekHealth Assessment Questionnaire-SpondyloarthropathiesHAQ-SOver the past weekShort Form - 36SF-36Different periods queried for different questions: Compared to a year ago; None Specified; Over the past 4 weeksFunctional Assessment of Chronic Illness Therapy - FatigueFACIT-FPast 7 DaysEQ-5D and EQ Visual Analog ScaleEQ-5D-5LTodayPsoriatic Arthritis Quality of LifePsAQOLNone specifiedPsoriatic Arthritis Impact of DiseasePsAIDDuring the last weekDermatology Life Quality IndexDLQIOver the last WeekPsoriasis Symptom InventoryPSILast 7 daysWork Productivity and Activity Impairment: General HealthWPAI:GHDuring the past 7 daysWork Productivity Survey - PsAWPS-PsALast monthBeck Depression InventoryBDI-IIDuring the past 2 weeksConclusionCurrently utilized PROs in PsA evaluating domains of fatigue, function, pain, and disease specific manifestations were all important regarding new therapeutic agents. However, some are more relevant than others to patients, most notably FACIT-F and PsAID, the latter being an important example of a patient-led and disease-specific development effort. Allowing reporting of items of concern without restrictive time periods is important to patients. These preferences and comments can be utilized to better understand the value of PROs in clinical settings to optimize patient-clinician communications.References[1]Gossec L, de Wit M, Kiltz U, et al. A patient-derived and patient-reported outcome measure for assessing psoriatic arthritis: elaboration and preliminary validation of the Psoriatic Arthritis Impact of Disease (PsAID) questionnaire, a 13-country EULAR initiative. Ann Rheum Dis 2014;73: 1012–9.Disclosure of InterestsPhilip J Mease Speakers bureau: AbbVie, Eli Lilly, Genentech, Janssen, Pfizer, Amgen, Novartis, UCB, Consultant of: AbbVie, Eli Lilly, Boehringer Ingelheim, Pfizer, Amgen, GAlapagos, Genentech, Janssen, Sun Pharma, BMS, Celgene, Novartis, UCB, GSK, Grant/research support from: AbbVie, Eli Lilly, Genentech, Janssen, Pfizer, Amgen, Galapagos, Novartis, Sun Pharma, BMS, Vibeke Strand Consultant of: Abbvie, Amgen Corporation, Arena, Aria, AstraZeneca, Bayer, Bioventus, BMS, Boehringer Ingelheim, Celltrion, Chemocentryx, Elsa, EMD Serono, Endo, Equilium, Flexion, Galapagos, Genentech / Roche, Gilead, GSK, Horizon, Ichnos, Inmedix, Janssen, Kiniksa, Kypha, Lilly, Merck, MiMedx, Novartis, Pfizer, Regeneron, Rheos, R-Pharma, Samsung, Sandoz, Sanofi, Scipher, Servier, Setpoint, Sorrento, Spherix, Sun Pharma, Swing, UCB, Daniel Furst Speakers bureau: Corbus, GSK, Sanofi, Consultant of: Actelion, Amgen, BMS, Corbus, Galapagos, Sanofi, Novartis, Pfizer, Grant/research support from: Actelion, Amgen, BMS, Galapagos, Sanofi, Roche/Genentech, Novartis, Pfizer, Evan Siegel Speakers bureau: AbbVie, Janssen, Eli Lilly, Novartis, UCB, Consultant of: BMS, AbbVie, Janssen, Eli Lilly, Novartis, UCB, Melissa Mcilraith Employee of: Past Employee of Abbott and Celgene, M Elaine Husni Consultant of: AbbVie, Amgen, Janssen, Novartis, Eli Lilly, UCB, Regeneron, M. Cameron Hay Grant/research support from: Novartis
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Doyle, Jennifer L., Christopher J. Carroll, Alison F. Corbally, and Alan G. Fahey. "An overview of international genetic evaluations of show jumping in sport horses." Translational Animal Science, April 3, 2022. http://dx.doi.org/10.1093/tas/txac038.

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Abstract The breeding of sport horses to compete in the Olympic disciplines of show jumping, eventing, and dressage is fast becoming a global industry with the increased use of reproductive technologies, including artificial insemination and embryo transfer. Reproductive technologies have facilitated the dissemination of genetics from elite horses across multiple countries and breeds as breeders are no longer limited by location. Due to this increased level of crossbreeding, there is an increased need for estimated breeding values for sport horse performance that can be compared across breeds and countries. However, the implementation of across-breed or across-country genetic evaluations has been limited by the differences in each studbook’s individual breeding programs and genetic evaluations. Consequently, the aim of this review was to compare the genetic evaluations for show jumping of sport horse studbooks worldwide. The top sport horse studbooks in the world according to the World Breeding Federation for Sport Horses Studbook Rankings 2019 were contacted by email to request information on their current breeding programs and genetic evaluations. Twenty-six of the 51 studbooks contacted replied to this request but only 18 of these studbooks conducted their own genetic evaluations or were part of a larger genetic evaluation in their country of origin. The other eight studbooks were not involved in genetic evaluations at present but expressed an interest in the implementation of such in the future. Overall, many differences were identified among the genetic evaluations of each studbook or each country. The definition of show jumping performance differed within each evaluation and the methods and models utilized also differed. Despite some stallions and mares being registered in multiple studbooks or having progeny in multiple studbooks, these differences make comparison of estimated breeding values across studbooks difficult. Further transparency and collaboration of sport horse studbooks with organizations such as Interstallion, will be essential to facilitate any future implementation of international genetic evaluations for show jumping performance.
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Teissier, Marc, Luiz F. Brito, Flavio S. Schenkel, Guido Bruni, Pancrazio Fresi, Beat Bapst, Christèle Robert-Granie, and Hélène Larroque. "Genetic Characterization and Population Connectedness of North American and European Dairy Goats." Frontiers in Genetics 13 (June 17, 2022). http://dx.doi.org/10.3389/fgene.2022.862838.

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Genomic prediction of breeding values is routinely performed in several livestock breeding programs around the world, but the size of the training populations and the genetic structure of populations evaluated have, in many instances, limited the increase in the accuracy of genomic estimated breeding values. Combining phenotypic, pedigree, and genomic data from genetically related populations can be a feasible strategy to overcome this limitation. However, the success of across-population genetic evaluations depends on the pedigree connectedness and genetic relationship among individuals from different populations. In this context, this study aimed to evaluate the genetic connectedness and population structure of Alpine and Saanen dairy goats from four countries involved in the European project SMARTER (SMAll RuminanTs Breeding for Efficiency and Resilience), including Canada, France, Italy, and Switzerland. These analyses are paramount for assessing the potential feasibility of an across-country genomic evaluation in dairy goats. Approximately, 9,855 genotyped individuals (with 51% French genotyped animals) and 6,435,189 animals included in the pedigree files were available across all four populations. The pedigree analyses indicated that the exchange of breeding animals was mainly unilateral with flows from France to the other three countries. Italy has also imported breeding animals from Switzerland. Principal component analyses (PCAs), genetic admixture analysis, and consistency of the gametic phase revealed that French and Italian populations are more genetically related than the other dairy goat population pairs. Canadian dairy goats showed the largest within-breed heterogeneity and genetic differences with the European populations. The genetic diversity and population connectedness between the studied populations indicated that an international genomic evaluation may be more feasible, especially for French and Italian goats. Further studies will investigate the accuracy of genomic breeding values when combining the datasets from these four populations.
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Boerner, Vinzent, Thuy T. T. Nguyen, and Gert J. Nieuwhof. "Integration of Interbull's multiple across-country evaluation approach breeding values into the multiple-trait single-step random regression test-day genetic evaluation for yield traits of Australian red breeds." Journal of Dairy Science, November 2022. http://dx.doi.org/10.3168/jds.2022-21816.

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Dido, Allo A., Dawit T. Degefu, Ermias Assefa, M. S. R. Krishna, B. J. K. Singh, and Kassahun Tesfaye. "Spatial and temporal genetic variation in Ethiopian barley (Hordeum vulgare L.) landraces as revealed by simple sequence repeat (SSR) markers." Agriculture & Food Security 10, no. 1 (December 2021). http://dx.doi.org/10.1186/s40066-021-00336-3.

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Abstract Background Ethiopia is considered as center of diversity for barley (Hordeum vulgare L.) and it is grown across different agro-ecologies of the country. Unraveling population structure and gene flow status on temporal scales assists an evaluation of the consequences of physical, demographic and overall environmental changes on the stability and persistence of populations. This study was to examine spatial and temporal genetic variation within and among barley landrace samples collected over a period of four decades, using simple sequence repeat markers. Results Results from STRUCTURE, neighbor joining tree and discriminant analysis of principal component (DAPC) analysis revealed presence low-to-high genetic diversity among the landraces and grouped the landraces into three clusters. The cluster analysis revealed a close relationship between landraces along geographic proximity with genetic distance increases along with geographic distance. From analysis of molecular variance (AMOVA) in terms of collection year, it was observed that within-population genetic diversity much higher than between population and that the temporal differentiation is considerably smaller. The low-to-high genetic differentiation between landraces could be attributed to gene flow across the region as a consequence of seed exchange among farmers. Conclusion The results demonstrate that this set of SSRs was highly informative and useful in generating a meaningful classification of barley germplasms. Furthermore, results obtained from this study also suggest that landraces are a source of valuable germplasm for sustainable agriculture in the context of future climate change and in situ conservation strategies following adaptation to local environments.
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46

Duan, Yanfeng, Shaoguang Duan, Jianfei Xu, Jiayi Zheng, Jun Hu, Xiaochuan Li, Baoju Li, Guangcun Li, and Liping Jin. "Late Blight Resistance Evaluation and Genome-Wide Assessment of Genetic Diversity in Wild and Cultivated Potato Species." Frontiers in Plant Science 12 (September 30, 2021). http://dx.doi.org/10.3389/fpls.2021.710468.

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Late blight, caused by the oomycete Phytophthora infestans, is the most devastating disease in potato-producing regions of the world. Cultivation of resistant varieties is the most effective and environmentally friendly way to control potato late blight disease, and identification of germplasms with late blight resistance and clarification their genetic relationship would promote the development of the resistant varieties. In this study, a diverse population of 189 genotypes with potential late blight resistance, consisting of 20 wild species and cultivated Solanum tuberosum Andigenum group and Chilotanum group, was screened for the presence of late blight resistance by performing challenge inoculation with four Phytophthora infestans isolates including one 13_A2 isolate, CN152. Ten elite resources with broad-spectrum resistance and 127 with isolate-specific resistance against P. infestans were identified. To improve the available gene pool for future potato breeding programs, the population was genotyped using 30 simple sequence repeat (SSR) markers covering the entire potato genome. A total of 173 alleles were detected with an average of 5.77 alleles per locus. Structure analysis discriminated the 189 potato genotypes into five populations based on taxonomic classification and genetic origin with some deviations. There was no obvious clustering by country of origin, ploidy level, EBN (endosperm balance number) value, or nuclear clade. Analysis of molecular variance showed 10.08% genetic variation existed among populations. The genetic differentiation (Fst) ranged from 0.0937 to 0.1764, and the nucleotide diversity (π) was 0.2269 across populations with the range from 0.1942 to 0.2489. Further genotyping of 20K SNP array confirmed the classification of SSRs and could uncover the genetic relationships of Solanum germplasms. Our results indicate that there exits abundant genetic variation in wild and cultivated potato germplasms, while the cultivated S. tuberosum Chilotanum group has lower genetic diversity. The phenotypic and genetic information obtained in this study provide a useful guide for hybrid combination and resistance introgression from wild gene pool into cultivated species for cultivar improvement, as well as for germplasm conservation efforts and resistance gene mining.
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47

VERMA, N. K., R. A. K. AGGARWAL, P. R. SHIVAHRE, REKHA SHARMA, and N. SAVINO. "Evaluation of genetic diversity in long hair Nagaland goat Sumi-Ne." Indian Journal of Animal Sciences 89, no. 1 (January 22, 2019). http://dx.doi.org/10.56093/ijans.v89i1.86393.

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The long hair Nagaland goat (LHNG) registered by the name Sumi-Ne (Accession No. ‘INDIA_GOAT_1400_ SUMI-NE_06028’) are mainly found in Zunehoboto and Tuensang districts whereas their number is very less in Kiphire, Phek and other districts of Nagaland. The long hair goat, as the name indicates, is distinguished from other goat populations of NEH region by the presence of long silky hair in males and are reared by Sumi tribe people under extensive and semi-extensive system of management. These goats are predominantly of black (head & neck) and white (remaining parts) colour. The long hair of these goats are of commercial utility for the tribal people. An attempt was made to characterize these goats genetically using microsatellite markers (23). All the 23 loci investigated were found polymorphic. Polymorphic information content ranged from 0.044 (OarJMP29) to 0.789 (ILSTS058) with an average 0.465±0.048. The total number of alleles observed across these microsatellite loci was 116. The number of alleles observed varied from 2 (OarJMP29) to 9 (ILSTS058) with an overall mean of 5.043±0.380. Effective number of alleles ranged from 1.048 (OarJMP29) to 5.414 (ILSTS058) with mean 2.576±0.285. The average observed heterozygosity within the population of LHNG ranged from0.043 (ETH225) to 0.786 (OMHC1) with an average of 0.347±0.040, whereas expected heterozygosity ranged from 0.045 (OarLMP29) to 0.815 (ILSTS058) with an average of 0.499±0.050. The expected heterozygosity was significantly higher than observed heterozygosity at most of loci except ILSTS059, OarJMP29, ILSTS34, ILSTS022 and RM088. Shannon’s information index which measures the level of genetic diversity was sufficiently high with a mean of 1.008±0.105 and ranged from 0.110 (OarJMP29) to 1.811 (ILSTS058). The within population inbreeding estimates (FIS) varied from –0.467 (ILSTS022) to 0.780 (ETH225) with average 0.258±0.064. Only 5 loci (ILSTS059, OarJMP29, ILSTS34, ILSTS022, RM088) revealed negative F values indicating the absence of inbreeding at these loci. About 26% of the inbreeding was noticed in LHNG leading to moderate level of homozygosity in the population. The L-shaped mode-shift curve indicated absence of bottleneck (reduction in the effective population size) in the recent past. Long hair goats of Nagaland are genetically distant (0.636) from both Singharey and Black goats of Sikkim and many other goat breeds of the country. There is a need to establish a separate goat farm in the native tract for maintaining the genetic purity, their propagation and conservation.
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48

Cardoso, Fernando Flores, Oswald Matika, Appolinaire Djikeng, Ntanganedzeni Mapholi, Heather M. Burrow, Marcos Jun Iti Yokoo, Gabriel Soares Campos, et al. "Multiple Country and Breed Genomic Prediction of Tick Resistance in Beef Cattle." Frontiers in Immunology 12 (June 23, 2021). http://dx.doi.org/10.3389/fimmu.2021.620847.

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Ticks cause substantial production losses for beef and dairy cattle. Cattle resistance to ticks is one of the most important factors affecting tick control, but largely neglected due to the challenge of phenotyping. In this study, we evaluate the pooling of tick resistance phenotyped reference populations from multi-country beef cattle breeds to assess the possibility of improving host resistance through multi-trait genomic selection. Data consisted of tick counts or scores assessing the number of female ticks at least 4.5 mm length and derived from seven populations, with breed, country, number of records and genotyped/phenotyped animals being respectively: Angus (AN), Brazil, 2,263, 921/1,156, Hereford (HH), Brazil, 6,615, 1,910/2,802, Brangus (BN), Brazil, 2,441, 851/851, Braford (BO), Brazil, 9,523, 3,062/4,095, Tropical Composite (TC), Australia, 229, 229/229, Brahman (BR), Australia, 675, 675/675, and Nguni (NG), South Africa, 490, 490/490. All populations were genotyped using medium density Illumina SNP BeadChips and imputed to a common high-density panel of 332,468 markers. The mean linkage disequilibrium (LD) between adjacent SNPs varied from 0.24 to 0.37 across populations and so was sufficient to allow genomic breeding values (GEBV) prediction. Correlations of LD phase between breeds were higher between composites and their founder breeds (0.81 to 0.95) and lower between NG and the other breeds (0.27 and 0.35). There was wide range of estimated heritability (0.05 and 0.42) and genetic correlation (-0.01 and 0.87) for tick resistance across the studied populations, with the largest genetic correlation observed between BN and BO. Predictive ability was improved under the old-young validation for three of the seven populations using a multi-trait approach compared to a single trait within-population prediction, while whole and partial data GEBV correlations increased in all cases, with relative improvements ranging from 3% for BO to 64% for TC. Moreover, the multi-trait analysis was useful to correct typical over-dispersion of the GEBV. Results from this study indicate that a joint genomic evaluation of AN, HH, BN, BO and BR can be readily implemented to improve tick resistance of these populations using selection on GEBV. For NG and TC additional phenotyping will be required to obtain accurate GEBV.
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49

Mignotte, Antoine, Claire Garros, Simon Dellicour, Maude Jacquot, Marius Gilbert, Laetitia Gardès, Thomas Balenghien, et al. "High dispersal capacity of Culicoides obsoletus (Diptera: Ceratopogonidae), vector of bluetongue and Schmallenberg viruses, revealed by landscape genetic analyses." Parasites & Vectors 14, no. 1 (February 3, 2021). http://dx.doi.org/10.1186/s13071-020-04522-3.

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Abstract Background In the last two decades, recurrent epizootics of bluetongue virus and Schmallenberg virus have been reported in the western Palearctic region. These viruses affect domestic cattle, sheep, goats and wild ruminants and are transmitted by native hematophagous midges of the genus Culicoides (Diptera: Ceratopogonidae). Culicoides dispersal is known to be stratified, i.e. due to a combination of dispersal processes occurring actively at short distances and passively or semi-actively at long distances, allowing individuals to jump hundreds of kilometers. Methods Here, we aim to identify the environmental factors that promote or limit gene flow of Culicoides obsoletus, an abundant and widespread vector species in Europe, using an innovative framework integrating spatial, population genetics and statistical approaches. A total of 348 individuals were sampled in 46 sites in France and were genotyped using 13 newly designed microsatellite markers. Results We found low genetic differentiation and a weak population structure for C. obsoletus across the country. Using three complementary inter-individual genetic distances, we did not detect any significant isolation by distance, but did detect significant anisotropic isolation by distance on a north-south axis. We employed a multiple regression on distance matrices approach to investigate the correlation between genetic and environmental distances. Among all the environmental factors that were tested, only cattle density seems to have an impact on C. obsoletus gene flow. Conclusions The high dispersal capacity of C. obsoletus over land found in the present study calls for a re-evaluation of the impact of Culicoides on virus dispersal, and highlights the urgent need to better integrate molecular, spatial and statistical information to guide vector-borne disease control. Graphical Abstract
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50

Ehichioya, Deborah U., Simon Dellicour, Meike Pahlmann, Toni Rieger, Lisa Oestereich, Beate Becker-Ziaja, Daniel Cadar, et al. "Phylogeography of Lassa Virus in Nigeria." Journal of Virology 93, no. 21 (August 14, 2019). http://dx.doi.org/10.1128/jvi.00929-19.

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ABSTRACT Lassa virus is genetically diverse with several lineages circulating in West Africa. This study aimed at describing the sequence variability of Lassa virus across Nigeria and inferring its spatiotemporal evolution. We sequenced and isolated 77 Lassa virus strains from 16 Nigerian states. The final data set, including previous works, comprised metadata and sequences of 219 unique strains sampled between 1969 and 2018 in 22 states. Most of this data originated from Lassa fever patients diagnosed at Irrua Specialist Teaching Hospital, Edo State, Nigeria. The majority of sequences clustered with the main Nigerian lineages II and III, while a few sequences formed a new cluster related to Lassa virus strains from Hylomyscus pamfi. Within lineages II and III, seven and five sublineages, respectively, were distinguishable. Phylogeographic analysis suggests an origin of lineage II in the southeastern part of the country around Ebonyi State and a main vector of dispersal toward the west across the Niger River, through Anambra, Kogi, Delta, and Edo into Ondo State. The frontline of virus dispersal appears to be in Ondo. Minor vectors are directed northeast toward Taraba and Adamawa and south toward Imo and Rivers. Lineage III might have spread from northern Plateau State into Kaduna, Nasarawa, Federal Capital Territory, and Bauchi. One sublineage moved south and crossed the Benue River into Benue State. This study provides a geographic mapping of lineages and phylogenetic clusters in Nigeria at a higher resolution. In addition, we estimated the direction and time frame of virus dispersal in the country. IMPORTANCE Lassa virus is the causative agent of Lassa fever, a viral hemorrhagic fever with a case fatality rate of approximately 30% in Africa. Previous studies disclosed a geographical pattern in the distribution of Lassa virus strains and a westward movement of the virus across West Africa during evolution. Our study provides a deeper understanding of the geography of genetic lineages and sublineages of the virus in Nigeria. In addition, we modeled how the virus spread in the country. This knowledge allows us to predict into which geographical areas the virus might spread in the future and prioritize areas for Lassa fever surveillance. Our study not only aimed to generate Lassa virus sequences from across Nigeria but also to isolate and conserve the respective viruses for future research. Both isolates and sequences are important for the development and evaluation of medical countermeasures to treat and prevent Lassa fever, such as diagnostics, therapeutics, and vaccines.
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