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1.
Nat Genet ; 53(1): 1, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33414547
3.
Nat Rev Rheumatol ; 17(2): 109-118, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33361770

RESUMEN

The axial spondyloarthritis (axSpA) disease concept has undergone substantial change from when the entity ankylosing spondylitis was defined by the modified New York criteria in 1984. Developments in imaging, therapy and genetics have all contributed to changing the concept of axSpA from one of erosions in the sacroiliac joints to a spectrum of disease with and without changes evident on plain radiographs. Changes to the previously held concept and construct of the disease have also necessitated new classification criteria. The use of MRI, primarily of the sacroiliac joints, has substantially altered the diagnosis and differential diagnosis of axSpA. Many in the axSpA community believe that the current classification criteria lack specificity, and the CLASSIC study is underway to examine this area. Although much about the evolving axSpA disease concept is universally agreed, there remains disagreement about operationalizing aspects of it, such as the requirement for the objective demonstration of axial inflammation for the classification of axSpA. New imaging technologies, biomarkers and genetics data will probably necessitate ongoing revision of axSpA classification criteria. Advances in our knowledge of the biology of axSpA will settle some differences in opinion as to how the disease concept is applied to the classification and diagnosis of patients.


Asunto(s)
Articulación Sacroiliaca/diagnóstico por imagen , Espondiloartritis/clasificación , Espondiloartritis/diagnóstico , Espondilitis Anquilosante/diagnóstico por imagen , Adulto , Biomarcadores/análisis , Diagnóstico Diferencial , Femenino , Genética/instrumentación , Humanos , Inflamación/patología , Imagen por Resonancia Magnética/métodos , Masculino , Radiografía/métodos , Articulación Sacroiliaca/patología , Espondiloartritis/tratamiento farmacológico , Espondiloartritis/patología
4.
Proc Natl Acad Sci U S A ; 117(42): 25963-25965, 2020 10 20.
Artículo en Inglés | MEDLINE | ID: mdl-33046646
5.
Can J Nurs Res ; 52(3): 199-208, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32893692

RESUMEN

Precision health is the integration of personal genomic data with biological, environmental, behavioral, and other information relevant to the care of a patient. Genetics and genomics are essential components of precision health. Genetics is the study of the effects of individual genes, and genomics is the study of all the components of the genome and interactions between genes, environmental factors, and other psychosocial and cultural factors. Knowledge about the role of genetics and genomics on health outcomes has increased substantially since the completion of the human genome project in 2003. Insights about genetics and genomics obtained from bench science are now having positive clinical implications on patient health outcomes. Nurses have the potential to make distinct contributions to precision health due to their unique role in the health care system. In this article, we discuss gaps in the development of precision health in nursing and how nursing can expand the definition of precision health to actualize its potential. Precision health plays a role in nursing practice. Understanding this connection positions nurses to incorporate genetic and genomic knowledge into their nursing practice.


Asunto(s)
Pautas de la Práctica en Enfermería/organización & administración , Medicina de Precisión/enfermería , Genética , Genómica , Humanos
6.
Nat Commun ; 11(1): 4505, 2020 09 09.
Artículo en Inglés | MEDLINE | ID: mdl-32908148

RESUMEN

Evidence for transgenerational inheritance of epigenetic information in vertebrates is scarce. Aberrant patterns of DNA methylation in gametes may set the stage for transmission into future generations. Here, we describe a viable hypomorphic allele of dnmt1 in zebrafish that causes widespread demethylation of CpG dinucleotides in sperm and somatic tissues. We find that homozygous mutants are essentially normal, with the exception of drastically impaired lymphopoiesis, affecting both larval and adult phases of T cell development. The phenotype of impaired larval (but not adult) T cell development is transmitted to subsequent generations by genotypically wildtype fish. We further find that about 200 differentially methylated regions in sperm DNA of transmitting and non-transmitting males, including hypermethylated sites associated with runx3 and rptor genes, whose reduced activities are associated with impaired larval T cell development. Our results indicate a particular sensitivity of larval T cell development to transgenerationally inherited epimutations.


Asunto(s)
Diferenciación Celular/genética , Genes Recesivos , Larva/crecimiento & desarrollo , Linfopoyesis/genética , Linfocitos T/fisiología , Alelos , Animales , Animales Modificados Genéticamente , Subunidad alfa 3 del Factor de Unión al Sitio Principal/genética , ADN (Citosina-5-)-Metiltransferasa 1/genética , ADN (Citosina-5-)-Metiltransferasa 1/metabolismo , Metilación de ADN , Epigénesis Genética , Femenino , Genética , Larva/citología , Masculino , Mutación , Proteína Reguladora Asociada a mTOR/genética , Espermatozoides/metabolismo , Pez Cebra/genética , Proteínas de Pez Cebra/genética , Proteínas de Pez Cebra/metabolismo
8.
Mutat Res ; 856-857: 503221, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32928368
9.
Hist Philos Life Sci ; 42(3): 36, 2020 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-32779040

RESUMEN

It has become customary in multilevel selection theory to use the same terms (namely "multilevel selection 1" and "multilevel selection 2") to denote both two explanatory goals (explaining why certain individual- and, respectively, group-level traits spread) and two explanatory means (namely, two kinds of group selection we may appeal to in such explanations). This paper spells out some of the benefits that derive from avoiding this terminological conflation. I argue that keeping explanatory means and goals well apart allows us to see that, contrary to a popular recent idea, Price's equation and contextual analysis-the statistical methods most extensively used for measuring the effects of certain evolutionary factors (like individual selection, group selection etc.) on the change in the focal individual trait in multilevel selection scenarios-do not come with built-in notions of group selection and, therefore, the efficacy of these methods at analyzing various kinds of cases does not constitute a basis for deciding how group selection should best be defined. Moreover, contrary to another widely accepted idea, I argue that more than one type of group selection may serve as explanatory means when one's goal is that of explaining the evolution of individual traits in multilevel selection scenarios and I spell out how this explanatory role should be understood.


Asunto(s)
Genética , Selección Genética , Terminología como Asunto , Evolución Biológica , Rasgos de la Historia de Vida , Modelos Genéticos , Fenotipo
10.
Rev. bras. ortop ; 55(4): 470-475, Jul.-Aug. 2020. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1138040

RESUMEN

Abstract Objective To evaluate the prevalence of family history of rotator cuff tear and the presence of tendinopathy in other joints in patients with rotator cuff tears and to compare them with paired controls. To estimate the odds ratio for rotator cuff tear for these two risk factors. Methods We performed a case-control study comparing patients submitted to treatment for rotator cuff tear with asymptomatic controls. All cases and controls were evaluated by imaging exams and matched by age (±2 years) and gender. We conducted an interview using a standardized questionnaire, and collected data on various risk factors. Results We evaluated 144 patients, 72 per group. Patients with rotator cuff tears reported a higher number of consanguineous relatives who underwent treatment for the same disease and tendon injuries in other joints compared to the controls (p= 0.005 and p= 0.045 respectively). Individuals with a family history of treatment for rotator cuff tear or with tendinopathies in other joints were more likely to present a rotator cuff tear, with odds ratios of 3.3 (95% confidence interval [95%CI] = 1.4-7.7) and 2.7 (95%CI = 1.1-6.9) respectively. Conclusions Patients with rotator cuff tear have a higher prevalence of family members with the same disease and tendinopathies or tendon injuries in other joints. The presence of consanguineous relatives with treatment for rotator cuff and tendinopathies in other joints are risk factors for the presence of rotator cuff tears.


Resumo Objetivo Avaliar as prevalências de antecedente familiar de rotura do manguito e de tendinopatia em outras articulações em pacientes com rotura do manguito rotador e compará-las com controles pareados. Estimar a razão de chances de uma rotura do manguito rotador para estes dois fatores de risco. Métodos Realizamos um estudo de caso-controle comparando pacientes submetidos ao tratamento para rotura do manguito rotador com controles assintomáticos. Todos os casos e controles foram avaliados por exames de imagem e pareados por idade (±2 anos) e sexo. Realizamos uma entrevista utilizando um questionário padronizado, e coletamos dados referentes a vários fatores de risco. Resultados Avaliamos 144 pacientes, 72 por grupo. Os pacientes com rotura do manguito rotador relataram, em maior número, a presença de familiares consanguíneos que realizaram tratamento para a mesma doença e de lesões tendíneas em outras articulações em relação aos indivíduos controles (p= 0,005 e p= 0,045, respectivamente). Indivíduos com antecedente familiar de tratamento para rotura do manguito rotador ou com tendinopatias em outras articulações tiveram maior probabilidade de apresentar rotura do manguito rotador, com razões de chances de 3,3 (intervalo de confiança de 95% [IC95%] = 1,4-7,7) e 2,7 (IC95% = 1,1-6,9), respectivamente. Conclusões Os pacientes com rotura do manguito rotador têm maior prevalência de familiares com a mesma doença e de tendinopatias ou lesões tendíneas em outras articulações. A presença de familiares consanguíneos com tratamento para rotura do manguito rotador e tendinopatias em outras articulações são fatores de risco para presença de roturas do manguito rotador.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Traumatismos de los Tendones , Estudios de Casos y Controles , Probabilidad , Encuestas y Cuestionarios , Factores de Riesgo , Manguito de los Rotadores , Confianza , Tendinopatía , Control , Identidad de Género , Genética , Anamnesis
11.
Nat Commun ; 11(1): 3442, 2020 07 10.
Artículo en Inglés | MEDLINE | ID: mdl-32651390

RESUMEN

Genomic evolution, transmission and pathogenesis of Streptococcus pneumoniae, an opportunistic human-adapted pathogen, is driven principally by nasopharyngeal carriage. However, little is known about genomic changes during natural colonisation. Here, we use whole-genome sequencing to investigate within-host microevolution of naturally carried pneumococci in ninety-eight infants intensively sampled sequentially from birth until twelve months in a high-carriage African setting. We show that neutral evolution and nucleotide substitution rates up to forty-fold faster than observed over longer timescales in S. pneumoniae and other bacteria drives high within-host pneumococcal genetic diversity. Highly divergent co-existing strain variants emerge during colonisation episodes through real-time intra-host homologous recombination while the rest are co-transmitted or acquired independently during multiple colonisation episodes. Genic and intergenic parallel evolution occur particularly in antibiotic resistance, immune evasion and epithelial adhesion genes. Our findings suggest that within-host microevolution is rapid and adaptive during natural colonisation.


Asunto(s)
Infecciones Neumocócicas/genética , Streptococcus pneumoniae/genética , Evolución Molecular , Genética , Genoma Bacteriano/genética , Humanos , Secuenciación Completa del Genoma
12.
PLoS One ; 15(7): e0233398, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32609717

RESUMEN

The objective is to improve the prediction accuracy of foundation pit deformation in geotechnical engineering, thereby provide early warning for engineering practice. The digital close-range photogrammetry is used to obtain monitoring data. The error compensation method is used to optimize the center of the monitoring point. Aiming at the limitations of back propagation neural network (BPNN), a genetic algorithm (GA)-optimized BPNN algorithm is proposed. Then, the optimized algorithm is applied to predict the deformation and displacement of foundation pits from three aspects, i.e., simple horizontal displacement, simple longitudinal displacement, and the combination of horizontal and longitudinal displacements. Meanwhile, the time domain, space domain, and time-space domain are used as input features to compare the prediction results of the BPNN model and the GA-optimized BPNN model. Finally, the GA-improved BPNN is compared with the Support Vector Regression (SVR) model and Random Forest (RF) model. The results show that the prediction result, obtained by simultaneously using horizontal displacement and longitudinal displacement as input features, has smaller errors; also, the actual output is closer to the expected output. Compared with the prediction result with time domain and space domain as input features, the prediction result with time-space domain as input features is closer to the expected output. Taking the combination of time and space domains as input features, compared with the BPNN model, the GA-optimized BPNN model has a lower Root Mean Squared Error (RMSE) value (0.0163), a larger Index of Agreement (IA) value (0.9800), and a shorter training time (7.08 s). Compared with the SVR model and RF model, the GA-improved BPNN model has a lower Root Mean Squared Error (RMSE) value (0.0211), a larger Index of Agreement (IA) value (0.9706), and shorter training time (7.61 s). Therefore, the foundation pit deformation prediction model based on BPNN and GA has strong prediction ability, which can be popularized and applied in similar geotechnical engineering.


Asunto(s)
Ingeniería , Geología , Redes Neurales de la Computación , Genética
13.
Hist Philos Life Sci ; 42(3): 32, 2020 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-32691291

RESUMEN

The Central Dogma of molecular biology, which holds that DNA makes protein and not the other way around, is as influential as it is controversial. Some believe the Dogma has outlived its usefulness, either because it fails to fully capture the ins-and-outs of protein synthesis (Griffiths and Stotz in Genetics and philosophy Cambridge introductions to philosophy and biology, Cambridge University Press, Cambridge, 2013; Stotz in Hist Philos Life Sci 28(4):533-548, 2006), because it turns on a confused notion of information (Sarkar in Molecular models of life, MIT Press, Cambridge, 2004), or because it problematically assumes the unidirectional flow of information from DNA to protein (Gottlieb, in: Oyama, Griffiths, Gray (eds), Cycles of contingency: developmental systems and evolution, MIT Press, Cambridge, 2001). This paper evaluates an underexplored defense of the Dogma, which relies on the assumption that the Dogma and the Inheritance of Acquired Traits, a principle which dates as far back as Jean Baptiste-Lamarck, are incompatible principles (Smith in The theory of evolution, Cambridge University Press, Cambridge, 1993; Judson in The eighth day of creation, Jonathan Cape, London, 1979; Dawkins in The extended phenotype, Oxford University Press, Oxford, 1970; Cobb in PLoS Biol 15(9):e2003243, 2017. https://doi.org/10.1371/journal.pbio.2003243 ; Wilkins in BioEssays 24(10):960-973, 2002. https://doi.org/10.1002/bies.10167 ; Graur The fallacious commingling of two unrelated hypotheses: 'the central dogma' and 'dna makes rna makes protein'. Judge Starling., 2018. http://judgestarling.tumblr.com/post/177554581856/the-fallacious-commingling-of-two-unrelated ). By appealing to empirical evidence in molecular science, I argue that this apparent incompatibility is indeed merely apparent. I conclude by briefly demonstrating how these considerations bear on the topic of conceptual pluralism in the philosophy of science (Stencel and Proszewska in Found Sci 23(4):603-620, 2018. https://doi.org/10.1007/s10699-017-9543-x ; Lu and Bourrat in Br J Philos Sci 69(3):775-800, 2018. https://doi.org/10.1093/bjps/axx019 ).


Asunto(s)
Genética , Herencia , Filosofía
14.
J Hist Biol ; 53(3): 451-484, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32524311

RESUMEN

In 1869, Johann Friedrich Miescher discovered a new substance in the nucleus of living cells. The substance, which he called nuclein, is now known as DNA, yet both Miescher's name and his theoretical ideas about nuclein are all but forgotten. This paper traces the trajectory of Miescher's reception in the historiography of genetics. To his critics, Miescher was a "contaminator," whose preparations were impure. Modern historians portrayed him as a "confuser," whose misunderstandings delayed the development of molecular biology. Each of these portrayals reflects the disciplinary context in which Miescher's work was evaluated. Using archival sources to unearth Miescher's unpublished speculations-including an analogy between the hereditary material and language, and a speculation that a series of asymmetric carbon atoms could account for hereditary variation-this paper clarifies the ways in which the past was judged through the lens of contemporary concerns. It also shows how organization, structure, function, and information were already being considered when nuclein was first discovered nearly 150 years ago.


Asunto(s)
ADN/historia , Genética/historia , Historiografía , Biología Molecular/historia , Química/historia , Cromatina/aislamiento & purificación , ADN/aislamiento & purificación , Historia del Siglo XIX , Humanos , Relaciones Interprofesionales , Supuración/historia , Suiza
15.
Hist Philos Life Sci ; 42(2): 27, 2020 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-32548727

RESUMEN

The history of genetics and the evolutionary theory in the USSR is multidimensional. Only in the 1920s after the October Revolution, and due in large part to that Revolution, the science of genetics arose in Soviet Russia. Genetics was limited, but not obliterated in the second half of the 1950s, and was restored in the late 1960s, after the resignation of Nikita S. Khrushchev. In the subsequent period, Soviet genetics experienced a resurgence, though one not as successful as geneticists would have liked. The Communist party bodies interfered constantly, but with different consequences for the development of genetics than when the earlier periods. The main troubles for Soviet genetics occurred during the unique, well-known, most contradictory, and tragic Stalinist period. The start date for the defeat of genetics is also known-August, 1948. In the social history of science and especially in the history of evolutionary biology (including genetics) it is natural, necessary, and even expected to adopt an evolutionary approach. In particular, historians of science need to consider and explain the evolution and dependence of Soviet science in regards to the evolution of Soviet society, the Soviet state, and the Communist party. This evolutionary perspective reflects the standards of evolutionary biology, evolutionary macrosociology, and also the history of science.


Asunto(s)
Comunismo/historia , Genética/historia , Historia del Siglo XX , U.R.S.S.
18.
Nat Commun ; 11(1): 2815, 2020 06 04.
Artículo en Inglés | MEDLINE | ID: mdl-32499537

RESUMEN

Understanding the genetic changes underlying phenotypic variation in sheep (Ovis aries) may facilitate our efforts towards further improvement. Here, we report the deep resequencing of 248 sheep including the wild ancestor (O. orientalis), landraces, and improved breeds. We explored the sheep variome and selection signatures. We detected genomic regions harboring genes associated with distinct morphological and agronomic traits, which may be past and potential future targets of domestication, breeding, and selection. Furthermore, we found non-synonymous mutations in a set of plausible candidate genes and significant differences in their allele frequency distributions across breeds. We identified PDGFD as a likely causal gene for fat deposition in the tails of sheep through transcriptome, RT-PCR, qPCR, and Western blot analyses. Our results provide insights into the demographic history of sheep and a valuable genomic resource for future genetic studies and improved genome-assisted breeding of sheep and other domestic animals.


Asunto(s)
Crianza de Animales Domésticos/métodos , Animales Salvajes/genética , Factor de Crecimiento Derivado de Plaquetas/metabolismo , Oveja Doméstica/genética , Alelos , Animales , Cruzamiento , Femenino , Frecuencia de los Genes , Variación Genética , Genética , Genómica , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Desequilibrio de Ligamiento , Mutación , Fenotipo , Polimorfismo de Nucleótido Simple , Selección Genética , Análisis de Secuencia de ADN , Ovinos , Especificidad de la Especie , Secuenciación Completa del Genoma
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