keyword
MENU ▼
Read by QxMD icon Read
search

genética

keyword
https://www.readbyqxmd.com/read/28678931/vascular-aging-and-arterial-stiffness
#1
Luana de Rezende Mikael, Anelise Machado Gomes de Paiva, Marco Mota Gomes, Ana Luiza Lima Sousa, Paulo César Brandão Veiga Jardim, Priscila Valverde de Oliveira Vitorino, Maicon Borges Euzébio, Wátila de Moura Sousa, Weimar Kunz Sebba Barroso
Cardiovascular diseases (CVD) account annually for almost one third of all deaths worldwide. Among the CVD, systemic arterial hypertension (SAH) is related to more than half of those outcomes. Type 2 diabetes mellitus is an independent risk factor for SAH because it causes functional and structural damage to the arterial wall, leading to stiffness. Several studies have related oxidative stress, production of free radicals, and neuroendocrine and genetic changes to the physiopathogenesis of vascular aging. Indirect ways to analyze that aging process have been widely studied, pulse wave velocity (PWV) being considered gold standard to assess arterial stiffness, because there is large epidemiological evidence of its predictive value for cardiovascular events, and it requires little technical knowledge to be performed...
June 29, 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28594829/mendel-md-a-user-friendly-open-source-web-tool-for-analyzing-wes-and-wgs-in-the-diagnosis-of-patients-with-mendelian-disorders
#2
Raony G C C L Cardenas, Natália D Linhares, Raquel L Ferreira, Sérgio D J Pena
Whole exome and whole genome sequencing have both become widely adopted methods for investigating and diagnosing human Mendelian disorders. As pangenomic agnostic tests, they are capable of more accurate and agile diagnosis compared to traditional sequencing methods. This article describes new software called Mendel,MD, which combines multiple types of filter options and makes use of regularly updated databases to facilitate exome and genome annotation, the filtering process and the selection of candidate genes and variants for experimental validation and possible diagnosis...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28538763/myosin-binding-protein-c-compound-heterozygous-variant-effect-on-the-phenotypic-expression-of-hypertrophic-cardiomyopathy
#3
Julianny Freitas Rafael, Fernando Eugênio Dos Santos Cruz, Antônio Carlos Campos de Carvalho, Ilan Gottlieb, José Guilherme Cazelli, Ana Paula Siciliano, Glauber Monteiro Dias
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the genetic nature of the disease. This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression...
April 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28485258/chromosomal-aberrations-in-monozygotic-and-dizygotic-twins-versus-singletons-in-denmark-during-1968-2009
#4
Lone Kroeldrup, Lisbeth A Larsen, Christina Fagerberg, Jens M Hertz, Kaare Christensen
BACKGROUND: Hall (Embryologic development and monozygotic twinning. Acta Geneticae Medicae et Gemellologiae, Vol. 45, 1996, pp. 53-57) hypothesized that chromosomal aberrations can lead to monozygotic (MZ) twinning. However, twinning and chromosomal aberrations increase prenatal mortality and could reduce the prevalence of chromosomal aberrations in live-born twins. We compared prevalence proportion ratios (PPR) of chromosomal aberrations and trisomy 21 (T21) in live-born twins versus singletons born in Denmark during 1968-2009...
May 9, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28423140/arboviruses-emerging-in-brazil-challenges-for-clinic-and-implications-for-public-health
#5
Maria Rita Donalisio, André Ricardo Ribas Freitas, Andrea Paula Bruno Von Zuben
Arboviruses have been emerging in different parts of the world due to genetic changes in the virus, alteration of the host and vector population dynamics, or because of anthropogenic environmental factors. These viruses' capacity for adaptation is notable, as well as the likelihood of their emergence and establishment in new geographic areas. In Brazilian epidemiologic scenario, the most common arboviruses are DENV, CHIKV, and ZIKV, although others may spread in the country. Little is yet known of the impact of viral co-circulation, which would theoretically result in more intense viremia or other immunological alterations that could trigger autoimmune diseases, such as Guillain-Barré syndrome...
April 10, 2017: Revista de Saúde Pública
https://www.readbyqxmd.com/read/28076606/giant-gastric-lipossarcoma-case-report-and-review-of-the-literature
#6
REVIEW
Jacques Matone, Samuel Okazaki, Gabriel Naman Maccapani, Thiago Trolez Amancio, Renée Zon Filippi, Antonio Luiz de Vasconcellos Macedo
Liposarcoma is one of the most common soft tissue sarcomas in adults, occurring in 15 to 20% of all patients with sarcoma. Primary liposarcoma of the stomach is rare. We report a case of patient with giant gastric liposarcoma who underwent surgery after a gastrointestinal bleeding. Preoperative hystopathological diagnosis was not established, even after three biopsy attempts. We discuss differential diagnosis, genetic causes, diagnosis strategies and treatment. RESUMO O lipossarcoma é um tipo comum de sarcomas em adultos, com incidência entre 15 e 20% entre os sarcomas...
October 2016: Einstein
https://www.readbyqxmd.com/read/28076487/technological-information-regarding-prebiotics-and-probiotics-nutrition-versus-the-patent-registers-what-is-new
#7
José Maciel Caldas Dos Reis, Maurício Fortuna Pinheiro, André Takashi Oti, Denilson José Silva Feitosa-Junior, Mauro de Souza Pantoja, Rui Sérgio Monteiro Barros
Introduction: Food is a key factor both in prevention and in promoting human health. Among the functional food are highlighted probiotics and prebiotics. Patent databases are the main source of technological information about innovation worldwide, providing extensive library for research sector. Objective: Perform mapping in the main patent databases about pre and probiotics, seeking relevant information regarding the use of biotechnology, nanotechnology and genetic engineering in the production of these foods...
November 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
https://www.readbyqxmd.com/read/28025247/prevalence-of-escherichia-coli-o157-h7-from-house-flies-diptera-muscidae-and-dairy-samples-in-north-central-florida1
#8
Roxanne G Burrus, Jerome A Hogsette, Phillip E Kaufman, James E Maruniak, Amy H Simonne, Volker Mai
La detección de Escherichia coli O157:H7 en las lecherías es importante para mejorar la seguridad de los productos lácteos, y se ha llevado a cabo principalmente mediante el aislamiento de las bacterias a partir de las muestras de estiércol. Sin embargo, los componentes biliares presentes en el estiércol complica la identificación genética utilizando la técnica del PCR, y el aislamiento microbiológico se dificulta por la presencia de bacterias competidoras que comparten características microbiológicas similares...
May 1, 2017: Journal of Medical Entomology
https://www.readbyqxmd.com/read/28000481/conducta-alimentaria-en-ni%C3%A3-os
#9
Karina Oyarce Merino, Macarena Valladares Vega, Roberto Elizondo-Vega, Ana María Obregón
Introducción: cambios socioculturales como el incremento en el sedentarismo y el consumo de alimentos ricos en grasas y azúcares, sumado a características genéticas, han producido un aumento en las cifras de obesidad a nivel mundial. La evaluación temprana en niños, mediante el establecimiento de perfi les genéticos asociados a obesidad y a la regulación metabólica y hedónica de la alimentación, complementado con estudios de la conducta alimentaria, nos permitiría predecir la predisposición a la obesidad en etapas adultas...
November 29, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/27844014/genetic-va-riation-in-the-na-rrow-c-lawed-c-ra-yfish-astacus-lepto-dactylus-po-pulatio-ns-as-assesse-d-by-pcr-rflp-of-mitochondria-l-coi-gene
#10
Majidreza Khos Hkholgh, Sajad Nazari
The genetic variation and population structure of narrow-clawed crayfish (Astacus leptodactylus) was examined by means of polymerase chain reaction (PC R) restriction fragment length polymorphism (RF LP) analysis of the cytochrome oxidase subunit I (COI) of mitochondrial DNA. A total of 194 adult specimens were collected from seven sample sites including, two in the south Caspian Sea and one each in Anzali wetland and Aras reservoir and three rivers Chafrood, Masule Rudkhan and S iah Darvishan. The PCR products were digested with 19 restriction enzymes and five enzymes revealed polymorphism patterns (DdeІ, MboІ, TaqI, RsaІ and HinfІ)...
December 2015: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/27828683/scientific-and-technological-capabilities-in-health-related-areas-opportunities-challenges-and-interactions-with-the-industrial-sector
#11
Marco Antonio Vargas, Jorge Britto
Characterization of the scientific and technological infrastructure in health and its interactions with the industrial sector provides key elements for understanding the dynamics of innovation in health. This study conducts an exploratory analysis of the potentialities and limitations associated with scientific and technological capabilities in the health area in Brazil and the different links between the scientific and industrial sectors in health. The analysis points to important growth in internationally indexed research output, especially in certain areas such as pharmaceutics, public health, genetics, morphology, physiology, and microbiology...
November 3, 2016: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/27812677/influence-of-angiotensin-converting-enzyme-gene-polymorphism-on-echocardiographic-data-of-patients-with-ischemic-heart-failure
#12
Gustavo Salgado Duque, Dayse Aparecida da Silva, Felipe Neves de Albuquerque, Roberta Siuffo Schneider, Alinne Gimenez, Roberto Pozzan, Ricardo Mourilhe Rocha, Denilson Campos de Albuquerque
Background: Association between angiotensin-converting-enzyme (ACE) gene polymorphisms and different clinical and echocardiographic outcomes has been described in patients with heart failure (HF) and coronary artery disease. Studying the genetic profile of the local population with both diseases is necessary to assess the occurrence of that association. Objectives: To assess the frequency of ACE gene polymorphisms in patients with ischemic HF in a Rio de Janeiro population, as well as its association with echocardiographic findings...
November 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27759995/factores-nutricionales-y-no-nutricionales-pueden-afectar-la-fertilidad-masculina-mediante-mecanismos-epigen%C3%A3-ticos
#13
Maria Oliver Bonet, Núria Mach
Introducción: la infertilidad es un problema global en aumento. Se estima que aproximadamente un 15% de las parejas en edad reproductiva tiene dificultades a la hora de concebir. De estas, alrededor de la mitad presentan uno o varios factores masculinos asociados a infertilidad o subfertilidad, aislados o en combinación con problemas de origen femenino. Durante la última década se ha empezado a estudiar la infertilidad desde una perspectiva multifactorial, considerando las interacciones y conexiones entre diferentes situaciones genéticas, epigenéticas, bioquímicas y fisiológicas del paciente...
September 20, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/27748217/genetic-etiologies-of-comorbidity-and-stability-for-reading-difficulties-and-adhd-a-replication-study
#14
Sally J Wadsworth, John C DeFries, Erik G Willcutt, Bruce F Pennington, Richard K Olson
Because of recent concerns about the replication of published results in the behavioral and biomedical sciences (Ioannidis, PLoS Medicine, Vol. 2, 2005, p. e124; Open Science Collaboration, Science, Vol. 349, 2015, p. 943; Pashler & Wagenmakers, Perspectives on Psychological Science, Vol. 7, 2012, pp. 528-530), we have conducted a replication of our recently published analyses of longitudinal reading performance and attention deficit-hyperactivity disorder data from twin pairs selected for reading difficulties (Wadsworth et al...
December 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/27737398/rare-case-of-nephrotic-syndrome-schimke-syndrome
#15
Anna Kelly Krislane de Vasconcelos Pedrosa, Luiz Fernando Oliveira Torres, Ana Corina Brainer Amorim da Silva, Adrianna Barros Leal Dantas, Káthia Liliane da Cunha Ribeiro Zuntini, Lia Cordeiro Bastos Aguiar
Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/27571668/-not-available
#16
Ismael San Mauro Martin, Paula Mendive Dubourdieu, Víctor Paredes Barato, Elena Garicano Vilar
Introducción: la tradición de la comida picante desempeña un papel muy importante en el gusto por este tipo de comida y su tolerancia. Las preferencias alimentarias muestran influencia genética y ambiental.Objetivos: estudiar la tolerancia y el gusto por el picante de tres poblaciones, y la influencia hereditaria y del ambiente.Métodos:se realizó una encuesta a 522 sujetos, de tres continentes (Asia, Europa y Latinoamérica) en tres idiomas (español, inglés y chino) a través de Internet. Se realizaron preguntas acerca de la tolerancia al picante, el gusto por los alimentos picantes, su uso, la edad de comienzo de consumo, el gusto del padre y de la madre y si ella lo consumía durante el embarazo y/o lactancia...
July 19, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/27527549/-skills-and-competencies-in-clinical-genetics-for-spanish-family-doctor
#17
EDITORIAL
Ismael Ejarque Doménech, Miguel García Ribes
No abstract text is available yet for this article.
August 2016: Atencion Primaria
https://www.readbyqxmd.com/read/27463255/the-genesis-of-the-aids-policy-and-aids-space-in-brazil-1981-1989
#18
Sandra Garrido de Barros, Ligia Maria Vieira-da-Silva
OBJECTIVE: To analyze the genesis of the policy for controlling AIDS in Brazil. METHODS: Socio-historical study (1981-1989), based on Bordieu's genetic sociology, by document analysis, bibliographical review, and in-depth interviews. It consisted of a connection between the analysis of the paths of 33 agents involved in the creation of a social space focusing on AIDS-related issues and the historical possibility conditions of the drafting of a specific policy. RESULTS: AIDS Space is a gathering point for the paths of agents from several social fields (medical, scientific, political, and bureaucratic fields)...
July 21, 2016: Revista de Saúde Pública
https://www.readbyqxmd.com/read/27462900/the-advances-and-new-technologies-for-the-study-of-mitochondrial-diseases
#19
Bianca Bianco, Erik Montagna
ABSTRACTGenetic mitochondrial disorders are responsible for the most common inborn errors of metabolism, caused by mutations in either nuclear genes or in mitochondrial DNA. This article presents the prokaryotic origin of the organelle and the relation between nuclear and mitochondrial genomes, as well as current evolutionary models for such mechanisms. It also addresses the structure of mitochondrial genes, their expression pattern, clinical features of gene defects, risk of transmission and current techniques to avoid these events in assisted human reproduction...
April 2016: Einstein
https://www.readbyqxmd.com/read/27462899/group-a-rotavirus-gastroenteritis-post-vaccine-era-genotypes-and-zoonotic-transmission
#20
REVIEW
Adriana Luchs, Maria do Carmo Sampaio Tavares Timenetsky
ABSTRACTThis article provides a review of immunity, diagnosis, and clinical aspects of rotavirus disease. It also informs about the changes in epidemiology of diarrheal disease and genetic diversity of circulating group A rotavirus strains following the introduction of vaccines. Group A rotavirus is the major pathogen causing gastroenteritis in animals. Its segmented RNA genome can lead to the emergence of new or unusual strains in human populations via interspecies transmission and/or reassortment events.RESUMOEste artigo fornece uma revisão sobre imunidade, diagnóstico e aspectos clínicos da doença causada por rotavírus...
April 2016: Einstein
keyword
keyword
34543
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"