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‣ Endocrinologia da gestação e parto em cadelas; Endocrinology of pregnancy and parturition in bitches

VEIGA, Giselle Almeida Lima da; SILVA, Liege Cristina Garcia da; LÚCIO, Cristina de Fátima; RODRIGUES, Jaqueline Aguiar; VANNUCCHI, Camila Infantosi
Fonte: Belo Horizonte Publicador: Belo Horizonte
Tipo: Artigo de Revista Científica
Português
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Os mecanismos relacionados ao controle endócrino do período gestacional e parto em cadelas ainda não estão totalmente elucidados. Desta maneira, a presente compilação de trabalhos científicos referentes aos principais eventos durante a gestação e o parto em cadelas tem por escopo a atualização sobre a endocrinologia em tais eventos fisiológicos e a divulgação sumariada dos conhecimentos gerados a partir das pesquisas científicas na área. É de conhecimento comum que a síntese e a secreção da progesterona, originária principalmente do corpo lúteo, são de extrema importância para manutenção e conseqüente progresso da gestação. Ainda, os níveis plasmáticos desse hormônio podem ser utilizados como método para predizer o momento do parto na espécie canina. Adicionalmente, a relaxina é detectada somente em cadelas gestantes, portanto sua detecção pode ser considerada um método de diagnóstico de gestação. Durante a segunda fase da gestação, observa-se liberação pulsátil de prolactina, simultaneamente ao aumento dos níveis de estrógeno. Entretanto, a influência do estrógeno no mecanismo de secreção de prolactina ainda é incerta. Por outro lado, ao final da gestação, evidencia-se queda dos níveis de progesterona e aumento dos níveis séricos de estrógeno...

‣ Islet neogenesis-associated protein signaling in neonatal pancreatic rat islets: involvement of the cholinergic pathway

BARBOSA, Helena C.; BORDIN, Silvana; ANHE, Gabriel; PERSAUD, Shanta J.; BOWE, James; BORELLI, Maria I.; GAGLIARDINO, Juan J.; BOSCHERO, Antonio C.
Fonte: BIOSCIENTIFICA LTD Publicador: BIOSCIENTIFICA LTD
Tipo: Artigo de Revista Científica
Português
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Islet neogenesis associated protein (INGAP) increases islet mass and insulin secretion in neonatal and adult rat islets. lit the Present Study, we measured the short- and long-term effects of INGAP-PP (a pentadecapeptide having the 104-118 amino acid sequence of INGAP) upon islet protein expression and phosphorylation of components of the PI3K, MAPK and cholinergic pathways, and on insulin secretion. Short-term exposure of neonatal islets to INGAP-PP (90 s, 5, 15, and 30 min) significantly increased Akt1(-Ser473) and MAPK3/1(-Thr202/Tyr204) phosphorylation and INGAP-PP also acutely increased insulin secretion from islets perifused with 2 and 20 mM glucose. Islets cultured for 4 days in the presence of INGAP-PP showed an increased expression of Akt1, Frap1, and Mapk1 mRNAs as well as of the muscarinic M3 receptor subtype, and phospholipase C (PLC)-beta 2 proteins. These islets also showed increased Akt1 and MAPK3/1 protein phosphorylation. Brief exposure of INGAP-P-treated islets to carbachol (Cch) significantly increased P70S6K(-Thr389) and MAPK3/1 phosphorylation and these islets released more insulin when challenged with Cch that was prevented by the M3 receptor antagonist 4-DAMP in a concentration-dependent manner. In conclusion...

‣ Avaliação da eficiência da eletroforese capilar como técnica analítica na prospecção de metabólitos de esteróides em extratos fecais de onça-pintada (Panthera onca); Evaluation of the efficiency of the capillary electrophoresis as analytical technique in the research of steroids metabolites in jaguar fecal extracts (Panthera onca)

Guião-Leite, Flaviana Lima
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 12/06/2006 Português
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O objetivo deste trabalho foi desenvolver um protocolo de extração hormonal à partir de fezes de onça-pintada (Panthera onca) e validar uma metodologia de análise destes extratos por eletroforese capilar, verificando a eficiência analítica desta técnica no estudo dos metabólitos de esteróides sexuais em fezes, com o intuito de utilização futura desta metodologia na rotina dos laboratórios de endocrinologia. Foram testados sete tratamentos para as amostras de fezes liofilizadas: quatro protocolos de extração em diferentes solventes, um de hidrólise ácida e dois protocolos de extração em fase sólida (SPE). O protocolo de extração em acetonitrila foi satisfatório como pré-tratamento da amostra e aliado à SPE C-18 apresentou bons resultados no que diz respeito à sensibilidade, precisão, recuperação e tempo de análise. Com base nos resultados obtidos, a eletroforese capilar pode ser considerada uma ótima alternativa para a prospecção de metabólitos de hormônios, podendo ser utilizada em análises de rotina nos laboratórios de endocrinologia animal, sobretudo naqueles que se dedicam às metodologias não-invasivas de avaliação da função reprodutiva em animais selvagens.; The objective of this work was to develop a protocol of hormonal extraction from jaguar feces (Panthera onca) and validate a methodology of analysis of these extracts with capillary electrophoresis...

‣ Fitoestrogênios : posicionamento do Departamento de Endocrinologia Feminina da Sociedade Brasileira de Endocrinologia e Metabologia (SBEM); Phytoestrogens : position of the Department of Female Endocrinology of the Brazilian Society of Endocrinology and Metabolism

Clapauch, Ruth; Meirelles, Ricardo Martins da Rocha; Julião, Maria Amélia S.G.; Loureiro, Claudia Kohler C.; Giarogoli, Paola B.; Pinheiro, Solange Alves; Harrigan, Albemar Roberts; Spritzer, Poli Mara; Pardini, Dolores Perovano; Weiss, Rita Vasconcello
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Artigo de Revista Científica Formato: application/pdf
Português
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Para avaliar a utilidade dos fitoestrogênios (FE) na terapia de reposição hormonal da menopausa (TRHM), o Departamento de Endocrinologia Feminina da SBEM reuniu um grupo de especialistas para fazer uma revisão bibliográfica e selecionar trabalhos nos quais a metodologia adotada demonstrasse rigor científico. Os FE têm ações estrogênicas e antiestrogênicas, predominantemente sobre os receptores de estrogênios (E) b, com potência estrogênica muito inferior à do estradiol. O conteúdo de FE nas suas fontes vegetais é variável, dependendo da forma de cultivo, safra, armazenamento e industrialização. Também a conversão dos precursores em fitormônios ativos no organismo humano tem grande variabilidade individual. A maior parte das pesquisas com FE é realizada in vitro ou com animais de laboratório, nem sempre podendo ser extrapoladas para humanos. Com relação à síndrome do climatério, alguns estudos sugerem discreta melhora dos fogachos, sem modificação do ressecamento vaginal ou das alterações do humor. No metabolismo lipídico, alimentação rica em soja, mas não isoflavonas isoladamente, promove redução do colesterol total, do LDL-col e dos triglicerídeos, mas não elevam o HDL-col, como os E, e podem causar aumento da lipoproteína (a)...

‣ Aplicação do protocolo de risco nutricional (NRS 2002) aos doentes internados no Serviço de Endocrinologia do Centro Hospitalar do Porto-Hospital de Santo António : Trabalho de Investigação : Nutritional risk screening (NRS 2002) application in patients hospitalized in the Endocrinology Service of Center Hospital of Porto- Hospital Santo António

Meira, Otília Margarida Azevedo
Fonte: Porto : edição de autor Publicador: Porto : edição de autor
Tipo: Artigo de Revista Científica Formato: 2 vols.(tese + relatório); 30 cm
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Resumo da tese: Objectivos: Rastrear os doentes admitidos no Serviço de Endocrinologia do CHP-HSA através da aplicação do protocolo de risco nutricional (NRS-2002), assim como a sua avaliação nutricional, intervenção e acompanhamento individualizado dos cuidados nutricionais ao doente hospitalizado. Métodos: Foi efectuado um estudo descritivo longitudinal em 39 pacientes, onde se pretendeu incluir todos os doentes admitidos no Serviço de Endocrinologia do CHP. Foram motivos de exclusão desta amostra o internamento inferior a 24 horas e a incapacidade em completar o protocolo de rastreio nutricional. Foi aplicado o Nutritional Risk Screening (NRS-2002) e recolhida uma história nutricional completa, ou seja, história clínica, avaliação antropométrica, estimativa da ingestão alimentar através do questionário às 24horas anteriores, avaliação nutricional através do exame físico e da detacção de sinais clínicos de défices nutricionais. Através do tratamento estatístico foi efectuada uma análise descritiva das variáveis, calculando-se os parâmetros de localização e dispersão para as variáveis continuas assim como, os extremos para as variáveis categóricas. Utilizou-se a prova de levene para avaliar a homogeneidade da variância. Quando a distribuição dos parâmetros estudados era normal...

‣ Diagnosis and management of primary hyperparathyroidism: a scientific statement from the Department of Bone Metabolism, the Brazilian Society for Endocrinology and Metabolism

Bandeira,Francisco; Griz,Luiz; Chaves,Narriane; Carvalho,Nara Crispim; Borges,Lívia Maria; Lazaretti-Castro,Marise; Borba,Victoria; Castro,Luiz Cláudio de; Borges,João Lindolfo; Bilezikian,John
Fonte: Sociedade Brasileira de Endocrinologia e Metabologia Publicador: Sociedade Brasileira de Endocrinologia e Metabologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/08/2013 Português
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OBJECTIVE: To conduct a literature review on the diagnosis and management of primary hyperparathyroidism including the classical hipercalcemic form as well as the normocalcemic variant. MATERIALS AND METHODS: This scientific statement was generated by a request from the Brazilian Medical Association (AMB) to the Brazilian Society for Endocrinology as part of its Clinical Practice Guidelines program. Articles were identified by searching in PubMed and Cochrane databases as well as abstracts presented at the Endocrine Society, Brazilian Society for Endocrinology Annual Meetings and the American Society for Bone and Mineral Research Annual Meeting during the last 5 years. Grading quality of evidence and strength of recommendation were adapted from the first report of the Oxford Centre for Evidence-based Medicine. All grades of recommendation, including "D", are based on scientific evidence. The differences between A, B, C and D, are due exclusively to the methods employed in generating evidence. CONCLUSION: We present a scientific statement on primary hyperparathyroidism providing the level of evidence and the degree of recommendation regarding causes, clinical presentation as well as surgical and medical treatment.

‣ The American College of Endocrinology and Endocrine Universitytrade mark.

Watts, Nelson B.; Rodbard, Helena W.; Hodgson, Stephen F.; Baskin, H. Jack
Fonte: American Clinical and Climatological Association Publicador: American Clinical and Climatological Association
Tipo: Artigo de Revista Científica
Publicado em //2004 Português
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Subspecialty training in endocrinology depends in part on local expertise, with fellows having "hands-on" experience in some areas but only "book knowledge" in others. To provide more uniform training in new technologies, The American College of Endocrinology developed Endocrine Universitytrade mark, which provides on-site didactic and interactive sessions on thyroid ultrasound, bone densitometry, and other topics over 6 to 7 days. The inaugural event in 2002 was attended by 137 fellows. A second conference in 2003 had capacity attendance of 143. A third course is scheduled for 2004. Fellows pay a token registration fee; the College provides grants to defray the cost of registration, travel, etc. Financial support comes from the College and industry, with plans for an endowment to sustain the program. Fellows value the educational sessions and also the unique opportunity to meet and visit with their peers. This innovative program can serve as a model for other specialties.

‣ Introduction. Integration of ecology and endocrinology in avian reproduction: a new synthesis

Wingfield, John C; Williams, Tony D; Visser, Marcel E
Fonte: The Royal Society Publicador: The Royal Society
Tipo: Artigo de Revista Científica
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Birds are some of the most familiar organisms of global ecosystems. Changes in the visibility and abundance of birds are therefore excellent indicators of population and physiological responses to habitat changes and are a major focus for public concern about detrimental environmental changes. In order to understand how birds respond to these challenges, it is essential to determine how the environment affects reproduction under natural conditions. The continuum from environmental variables (cues) to reproductive life-history traits depends upon a cascade of neural and physiological processes that determine the extent and rate at which birds will be able to adapt to changes in their environment. For a full understanding of this ability to adapt, ecologists and endocrinologists need to collaborate and build a common framework. The objective of this theme issue is to bring together a series of papers addressing how evolutionary ecologists and endocrinologists can collaborate directly using avian reproduction as a model system. First, we address the need to integrate ecology and endocrinology and what benefits to biological knowledge will be gained. The papers collected in this issue represent a new synthesis of ecology and endocrinology as discussed in three E-BIRD workshops. The three main foci are trade-offs and constraints...

‣ Current research in amphibians: Studies integrating endocrinology, behavior, and neurobiology

Wilczynski, Walter; Lynch, Kathleen S.; O’Bryant, Erin L.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
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Amphibian behavioral endocrinology has focused on reproductive social behavior and communication in frogs and newts. Androgens and estrogens are critical for the expression of male and female behavior, respectively, and their effects are relatively clear. Corticosteroids have significant modulatory effects on the behavior of both sexes, as does the peptide neuromodulator arginine vasotocin in males, but their effects and interactions with gonadal steroids are often complex and difficult to understand. Recent work has shown that the gonadal hormones and social behavior are mutually reinforcing: engaging in social interactions increases hormone levels just as increasing hormone levels change behavior. The reciprocal interactions of hormones and behavior, as well as the complex interactions among gonadal steroids, adrenal steroids, and peptide hormones have implications for the maintenance and evolution of natural social behavior, and suggest that a deeper understanding of both endocrine mechanisms and social behavior would arise from field studies or other approaches that combine behavioral endocrinology with behavioral ecology.

‣ Physiology and Endocrinology of the Ovarian Cycle in Macaques

Weinbauer, Gerhard F.; Niehoff, Marc; Niehaus, Michael; Srivastav, Shiela; Fuchs, Antje; Van Esch, Eric; Cline, J. Mark
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /12/2008 Português
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Macaques provide excellent models for preclinical testing and safety assessment of female reproductive toxicants. Currently, cynomolgus monkeys are the predominant species for (reproductive) toxicity testing. Marmosets and rhesus monkeys are being used occasionally. The authors provide a brief review on physiology and endocrinology of the cynomolgus monkey ovarian cycle, practical guidance on assessment and monitoring of ovarian cyclicity, and new data on effects of social housing on ovarian cyclicity in toxicological studies. In macaques, cycle monitoring is achieved using daily vaginal smears for menstruation combined with cycle-timed frequent sampling for steroid and peptide hormone analysis. Owing to requirements of frequent and timed blood sampling, it is not recommended to incorporate these special evaluations into a general toxicity study design. Marmosets lack external signs of ovarian cyclicity, and cycle monitoring is done by regular determinations of progesterone. Cynomolgus and marmoset monkeys do not exhibit seasonal variations in ovarian activity, whereas such annual rhythm is pronounced in rhesus monkeys. Studies on pair- and group-housed cynomolgus monkeys revealed transient alterations in the duration and endocrinology of the ovarian cycle followed by return to normal cyclicity after approximately six months. This effect is avoided if the animals had contact with each other prior to mingling. These experiments also demonstrated that synchronization of ovarian cycles did not occur.

‣ Commentary: Parallel Evolution of Molecular Endocrinology as a Journal and a Discipline: Convergence of Interests with the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK/NIH)

Margolis, Ronald; Smith, Philip
Fonte: The Endocrine Society Publicador: The Endocrine Society
Tipo: Artigo de Revista Científica
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The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) celebrates in 2010 its 60th year as an institute of the National Institutes of Health. NIDDK has been fundamental in providing support for research in endocrinology, fostering research to elucidate basic principles of endocrine signaling leading to understanding of diseases and disorders of hormone action. Over this time span, a move to a more molecular level in understanding of the basis of hormone action has emerged and been supported by NIDDK, with many advances finding their way into a new journal, Molecular Endocrinology. The merging of disciplines that has made this possible constitutes a major force for further progress as NIDDK moves forward over the next 60 yr. Together, NIDDK and Molecular Endocrinology have served as catalysts for advancing knowledge in the field, energizing new paradigms that have led to advances in the clinic.

‣ Endocrinology of the Aging Male

Araujo, Andre B.; Wittert, Gary A.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /04/2011 Português
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The endocrinology of the aging male is complex, with multiple hormones along the hypothalamic-pituitary-testicular (HPT) axis interacting with one another in feedback. As men age, there is a small and progressive (not precipitous, as in women) decline in several sex hormones, in particular testosterone and dehydroepiandrosterone, and related increases in luteinizing hormone, follicle-stimulating hormone, and sex hormone-binding globulin. The importance of these changes is wide-ranging because of the ubiquitous role of sex hormones in male physiology. This chapter discusses the endocrinology of the aging male. We provide an overview of the regulation of the HPT axis with an emphasis on the changes that occur with aging and the measurement of gonadal steroids, including hormone pulsatility, within-subject and circadian variations. The difficulties of assessing the symptoms of late-onset hypogonadism are highlighted. There is a comprehensive discussion of the epidemiology of sex hormone changes, including their age associations, prevalence of symptomatic hypogonadism, secular changes, risk factors, and the association of sex hormones with outcomes.

‣ Endocrinology in Thailand: Unique challenges, unique solutions

Wiwanitkit, Viroj
Fonte: Medknow Publications Publicador: Medknow Publications
Tipo: Artigo de Revista Científica
Publicado em //2011 Português
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Thailand is a developing country in Southeast Asia with a nationally acknowledged requirement for improvement of the medical system. At present, endocrinology is a specific branch of medicine that is taught in few medical schools. There are very few endocrinologists in Thailand, who are unable to cope with the large number of patients with endocrinology problems. Primary care for common endocrine disorders, such as diabetes mellitus and thyroid disease, is still the domain of general practitioners. In this article, the author will present unique challenges and unique solutions of endocrinology practice in Thailand.

‣ Comparative Endocrinology of Aging and Longevity Regulation

Allard, John B.; Duan, Cunming
Fonte: Frontiers Research Foundation Publicador: Frontiers Research Foundation
Tipo: Artigo de Revista Científica
Publicado em 23/11/2011 Português
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Hormones regulate growth, development, metabolism, and other complex processes in multicellular animals. For many years it has been suggested that hormones may also influence the rate of the aging process. Aging is a multifactorial process that causes biological systems to break down and cease to function in adult organisms as time passes, eventually leading to death. The exact underlying causes of the aging process remain a topic for debate, and clues that may shed light on these causes are eagerly sought after. In the last two decades, gene mutations that result in delayed aging and extended longevity have been discovered, and many of the affected genes have been components of endocrine signaling pathways. In this review we summarize the current knowledge on the roles of endocrine signaling in the regulation of aging and longevity in various animals. We begin by discussing the notion that conserved systems, including endocrine signaling pathways, “regulate” the aging process. Findings from the major model organisms: worms, flies, and rodents, are then outlined. Unique lessons from studies of non-traditional models: bees, salmon, and naked mole rats, are also discussed. Finally, we summarize the endocrinology of aging in humans...

‣ Interventional endocrinology: A futuristic perspective

Singla, Rajiv; Singla, Sweta
Fonte: Medknow Publications & Media Pvt Ltd Publicador: Medknow Publications & Media Pvt Ltd
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
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Interventions in endocrinology make a huge impact on life of patients with endocrine diseases. This brief communication discusses the role played by both medical and surgical interventions in practice of endocrinology. Endocrinology is branch of medicine where treatment is as close to ideal as possible. For people with hormone deficiencies, medical intervention in form of replacement with hormones generated by recombinant technologies is a perfectly natural treatment. Hormone excess is also being evaluated and treated with exceedingly precise surgical interventions with minimal morbidity.

‣ Microbial endocrinology: Host-microbiota neuroendocrine interactions influencing brain and behavior

Lyte, Mark
Fonte: Landes Bioscience Publicador: Landes Bioscience
Tipo: Artigo de Revista Científica
Português
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The ability of microorganisms, whether present as commensals within the microbiota or introduced as part of a therapeutic regimen, to influence behavior has been demonstrated by numerous laboratories over the last few years. Our understanding of the mechanisms that are responsible for microbiota-gut-brain interactions is, however, lacking. The complexity of the microbiota is, of course, a contributing factor. Nonetheless, while microbiologists approaching the issue of microbiota-gut-brain interactions in the behavior well recognize such complexity, what is often overlooked is the equal complexity of the host neurophysiological system, especially within the gut which is differentially innervated by the enteric nervous system. As such, in the search for common mechanisms by which the microbiota may influence behavior one may look for mechanisms which are shared by both host and microbiota. Such interkingdom signaling can be found in the shared production of neurochemical mediators that are found in both eukaryotes and prokaryotes. The study of the production and recognition of neurochemicals that are exactly the same in structure to those produced in the vertebrate organisms is known as microbial endocrinology. The examination of the microbiota from the vantage point of host-microbiota neuroendocrine interactions cannot only identify new microbial endocrinology-based mechanisms by which the microbiota can influence host behavior...

‣ Comparative Cognitive Development and Endocrinology in Pan and Homo

Wobber, Victoria Elizabeth
Fonte: Harvard University Publicador: Harvard University
Tipo: Thesis or Dissertation
Português
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Key insights into the evolutionary origins of human social behavior can be gained via study of our closest living relatives, bonobos (Pan paniscus) and chimpanzees (Pan troglodytes). Despite being equally related to humans, these two species differ importantly in aspects of their morphology, physiology, behavior, and cognition. Morphological comparisons reveal numerous traits in bonobos that can be viewed as paedomorphic, or juvenile, relative to chimpanzees. Meanwhile, comparisons of endocrinology in the two species suggest that aspects of steroid physiology have changed significantly in bonobos in line with their reductions in male mating competition. Based on this evidence, I tested the hypothesis that behavioral and cognitive differences between bonobos and chimpanzees derive from changes in their 1) developmental trajectories of behavioral and cognitive traits and 2) neuroendocrine influences on behavior and cognition. I tested this hypothesis by studying semi free-ranging populations of bonobos and chimpanzees. First, I found that bonobos retained juvenile levels of food sharing and social inhibition into adulthood, leading them to differ from chimpanzees in these traits as adults. Second, I found that bonobos showed muted elevations in their levels of testosterone from infancy to adulthood in comparison to chimpanzees...

‣ Pediatric Graves’ disease: management in the post-propylthiouracil Era

Rivkees, Scott A.
Fonte: Bio-Med Central ( International Journal of Pediatric Endocrinology); Bio-Med Central ( International Journal of Pediatric Endocrinology) Publicador: Bio-Med Central ( International Journal of Pediatric Endocrinology); Bio-Med Central ( International Journal of Pediatric Endocrinology)
Tipo: mixed material
Publicado em //2014 Português
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Rivkees International Journal of Pediatric Endocrinology 2014, 2014:10 http://www.ijpeonline.com/content/2014/1/10; Pages 1-10; doi:10.1186/1687-9856-2014-10 Cite this article as: Rivkees: Pediatric Graves’ disease: management in the post-propylthiouracil Era. International Journal of Pediatric Endocrinology 2014 2014:10.

‣ The practice of endocrinology in a rural setting: suggested guidelines

Adetuyibi, A.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em //1976 Português
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For the purposes of medical practice, a `rural setting' implies an environment with little or no facilities for the sophisticated laboratory investigations that may be needed for the diagnosis of certain endocrine disorders. Fortunately, however, most of the commoner endocrine disorders may be diagnosed from the patient's history and a physical examination, together if necessary with the observed response to therapy. A lack of facilities, therefore, need not hinder the effective practice of endocrinology in rural areas.

‣ Molecular diagnosis in the clinical practice: an endocrinologist’s perspective; Diagnóstico molecular na prática clínica: visão do endocrinologista

Ferraz-de-Souza, Bruno
Fonte: Universidade de São Paulo. Faculdade de Medicina Publicador: Universidade de São Paulo. Faculdade de Medicina
Tipo: info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion; Formato: application/pdf
Publicado em 22/12/2015 Português
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Endocrinology is one of several medical specialities that have been gradually transformed by a deeper understanding of the molecular bases of disorders. Genetic testing with the purposes of defining a precise molecular diagnosis has increasingly gained space in the routine assessment of patients with endocrinopathies, and the advent of massive parallel sequencing (MPS) is boosting the incorporation of molecular information in the clinic. The main benefit of genetic testing is diagnostic precision, resulting in improved and individualized care for patients and family members, and better disease prevention. However, genetic tests are not infallible and may bear several potential risks, being thus indicated when clinical suspicion is strong and the benefit of determining a molecular diagnosis is unambiguous. In this review, these evolving concepts and current indications for molecular diagnosis in endocrinology will be explored. Molecular tools will be revised and contextualised, including those aimed at identifying changes in gene dosage (karyotpe, FISH, MLPA, aCGH, SNParray) or in the DNA nucleotide sequence (allele-specific PCR, RFLP, Sanger sequencing, MPS or NGS). Finally, matters surrounding the complex attribution of biologically relevant functional impact to identified DNA variants will be explored...