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Avaliação da concordância em diferentes fases do processo diagnóstico, embasada na necropsia, no HCFMRPUSP, nos anos de 1980, 1990 e 2000 ; Assessment of the agreement on different phases of the diagnostic process, based on necropsy, at HCFMRPUSP, in 1980, 1990 and 2000.

Grade, Márcio Henrique Carvalho
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 04/06/2007 Português
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O processo diagnóstico na medicina traduz-se por uma complexa interação entre conhecimentos, habilidades e procedimentos técnicos em condições de incerteza. As variáveis que o cercam são inúmeras e de difícil caracterização, dificultando o desenvolvimento de estudos mais aprofundados sobre o processo de elaboração do diagnóstico. O papel da necropsia na avaliação da performance do diagnóstico clínico já está bem demonstrado, sendo geralmente aceito que ela pode ser usada como uma ferramenta para analisar possíveis discrepâncias. A literatura médica vem apresentando com maior freqüência a questão dos erros no cuidado à saúde, e têm proposto que novos estudos são necessários para avaliar os erros diagnósticos e com isto propiciar condições para uma melhora desta questão. Nós propusemos um estudo para verificar a concordância diagnóstica em três fases deste processo, em pacientes do Hospital das Clínicas de Ribeirão Preto. Analisamos retrospectivamente todos os diagnósticos de trezentos pacientes que faleceram em nosso hospital, sendo cem pacientes para cada ano escolhido para este estudo (1980, 1990 e 2000). Classificamos os diagnósticos em: clínicos iniciais, considerados aqueles de entrada do paciente sem o apoio de exames complementares dentro do hospital; clínicos finais...

Acurácia diagnóstica da ecocardiografia sob estresse associada ao estudo da perfusão miocárdica com contraste na avaliação da isquemia miocárdica: estudo comparativo entre adenosina e dobutamina; Diagnostic accuracy of quantitative real time myocardial contrast echocardiography for the detection of myocardial ischemia. A comparative study between adenosine and dobutamine

Kowatsch, Ingrid
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 23/08/2005 Português
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A ecocardiografia com perfusão miocárdica em tempo real (EPMTR) permite a quantificação do fluxo sangüíneo miocárdico e, quando realizada durante o estresse, da reserva de fluxo miocárdico (reserva Axß). Essa técnica tem potencial para ser uma importante ferramenta para o diagnóstico não-invasivo da doença arterial coronariana (DAC). Apesar do conhecimento atual das alterações fisiológicas que ocorrem com o uso de agentes vasodilatadores ou catecolaminas na circulação coronariana, não há dados na literatura comparando diretamente o valor da EPMTR, sob estresse pela dobutamina e pela adenosina, para a detecção de DAC em humanos. Os objetivos deste estudo foram: avaliar, em um mesmo grupo de pacientes, a exeqüibilidade e a acurácia da EPMTR, sob estresse pela dobutamina e pela adenosina, para a detecção de estenose arterial coronariana angiograficamente significativa e determinar o valor adicional da análise quantitativa da perfusão miocárdica sobre o eletrocardiograma de 12 derivações, da motilidade segmentar e da análise qualitativa da perfusão miocárdica obtidas durante o estresse pela dobutamina e pela adenosina. Estudamos 54 pacientes (média etária de 60±9 anos, 33 homens) com suspeita clínica de DAC e indicação de angiografia coronariana. Todos os pacientes foram submetidos à EPMTR sob estresse pela adenosina na dose de 140 g/kg/min por seis minutos e...

Raciocínio diagnóstico de enfermeiros e estudantes de enfermagem; Baccalaureate nurses and undergraduate students diagnostic reasoning

Rodrigues, Adriana da Silva
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 03/10/2012 Português
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O conhecimento sobre o raciocínio diagnóstico de enfermeiros e estudantes de enfermagem é importante para orientar decisões sobre a formação e educação permanente de enfermeiros. Os objetivos deste estudo foram adaptar o Diagnostic Thinking Inventory (DTI) para uso no Brasil, estimar as propriedades psicométricas do instrumento adaptado, e analisar o raciocínio diagnóstico de enfermeiros e estudantes de enfermagem segundo variáveis selecionadas. O DTI é um inventário de origem canadense, alicerçado na teoria da geração de hipóteses, desenvolvido para avaliar o raciocínio diagnóstico em dois domínios (grau de flexibilidade do pensamento e grau de estrutura de conhecimento na memória). O processo de adaptação do DTI resultou em uma versão brasileira que foi aplicada em uma amostra de 83 enfermeiros (28,9%); idade média de 29,7±,6,66 anos e 205 estudantes (71,1%); idade média de 24,7 ±5,61 anos. A análise fatorial confirmatória dos 41 itens do DTI mostrou ajuste moderado do modelo (2 = 1369; GFI= 0,793; AGFI= 0,771; RMSEA= 0,053; NFI= 0,458; NNFI= 0,635; CFI= 0,654 e SRMR= 0,068) e consistência interna (alfa de Crombach) boa ou aceitável para o total dos itens (0,801), para o domínio de flexibilidade (0...

Diagnostic profile of inpatients as a determinant of length of stay in a general hospital psychiatric unit

Hallak,J.E.C.; Crippa,J.A.S.; Vansan,G.; Zuardi,A.W.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2003 Português
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The aim of this study was to determine if the diagnostic profile of inpatients of a psychiatric unit in a general hospital influences the length of stay. The results of a retrospective survey comprising the first 16 years of operation of the Psychiatric Unit of the Ribeirão Preto General Hospital (PURP) showed that the progressive increase observed in the length of stay correlated with the increase in percentage of schizophrenia diagnosis, after the 8th year of hospital operation, and of affective disorders, after the 12th year. The length of hospitalization kept increasing until the 16th year, even though there was no change in the diagnostic profile of the patients admitted to the unit. In a prospective study encompassing the next six months, 61 inpatients were evaluated with the Structured Clinical Interview for DSM-III-R and the Brief Psychiatric Rating Scale (BPRS). The results showed that 82% of the inpatients fulfilled the diagnostic criteria for the schizophrenic or affective disorder spectrum at admission, with a discharge rate slower than for other diagnoses, although the length of hospitalization did not significantly differ among diagnostic categories. The results further demonstrated that in every diagnostic category more than 50% of the patients stayed in hospital for more than one week after reaching a BPRS score equal to 6...

Modeling of Novel Diagnostic Strategies for Active Tuberculosis – A Systematic Review: Current Practices and Recommendations

Zwerling, Alice; White, Richard G.; Vassall, Anna; Cohen, Ted; Dowdy, David W.; Houben, Rein M. G. J.
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Português
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Introduction: The field of diagnostics for active tuberculosis (TB) is rapidly developing. TB diagnostic modeling can help to inform policy makers and support complicated decisions on diagnostic strategy, with important budgetary implications. Demand for TB diagnostic modeling is likely to increase, and an evaluation of current practice is important. We aimed to systematically review all studies employing mathematical modeling to evaluate cost-effectiveness or epidemiological impact of novel diagnostic strategies for active TB. Methods: Pubmed, personal libraries and reference lists were searched to identify eligible papers. We extracted data on a wide variety of model structure, parameter choices, sensitivity analyses and study conclusions, which were discussed during a meeting of content experts. Results & Discussion From 5619 records a total of 36 papers were included in the analysis. Sixteen papers included population impact/transmission modeling, 5 were health systems models, and 24 included estimates of cost-effectiveness. Transmission and health systems models included specific structure to explore the importance of the diagnostic pathway (n = 4), key determinants of diagnostic delay (n = 5), operational context (n = 5), and the pre-diagnostic infectious period (n = 1). The majority of models implemented sensitivity analysis...

Determinants of malaria diagnostic uptake in the retail sector: qualitative analysis from focus groups in Uganda

Cohen, Jessica; Cox, Alex; Dickens, William; Maloney, Kathleen; Lam, Felix; Fink, Günther
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Português
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Background: In Uganda, as in most other malaria-endemic countries, presumptive treatment for malaria based on symptoms without a diagnostic blood test is still very common. While diagnostic testing in public sector facilities is increasing, many people in Uganda who suspect malaria visit private sector outlets to purchase medications. Increasing the availability and uptake of rapid diagnostic tests (RDTs) for malaria in private outlets could help increase diagnostic testing for malaria but raises questions about the patient demand for and valuation of testing that are less critical for public sector introduction. Methods: In preparation for a behaviour change campaign to encourage and sustain the demand for RDTs in drug shops, eight focus group discussions with a total of 84 community members were conducted in six districts across Uganda’s Eastern Region in November-December 2011. Focus groups explored incentives and barriers to seeking diagnosis for malaria, how people react to test results and why, and what can be done to increase the willingness to pay for RDTs. Results: Overall, participants were very familiar with malaria diagnostic testing and understood its importance, yet when faced with limited financial resources, patients preferred to spend their money on medication and sought testing only when presumptive treatment proved ineffective. While side effects did seem to be a concern...

The accuracy of influenza A (H1N1) "swine flu" laboratory testing: a systematic review of diagnostic test accuracy.

White, Sarahlouise
Fonte: Universidade de Adelaide Publicador: Universidade de Adelaide
Tipo: Tese de Doutorado
Publicado em //2011 Português
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Background: Influenza A (H1N1) recently became pandemic, highlighting the need for a cheap and accurate diagnostic test to diagnose this virus in a clinically relevant timeframe. The current reference standard (viral culture) requires a significant degree of technical expertise, laboratory time, resources and can take up to 10 days to obtain a result, during which time there could be a significant spread of infection. The objective of this study was to obtain summary estimates of the diagnostic accuracy of currently available laboratory tests compared to viral culture for the diagnosis of Influenza A (H1N1) from respiratory samples. Search Strategy: Diagnostic tests are still poorly indexed by major databases; therefore the search strategy was deliberately very broad. A range of databases of both published and Grey Literature were searched, using both Medical Subject Headings and text words. The reference lists of included studies and review articles were also searched for additional studies. Selection Criteria: Studies that compared the diagnostic accuracy of any laboratory test (index test) compared to viral culture as the reference test were considered for inclusion. The inclusion criteria required each patient to undergo both the index and reference test...

The accuracy of Influenza A (H1N1) “swine flu” laboratory testing: a systematic review of diagnostic test accuracy

White, S.; Schultz, T.
Fonte: Joanna Briggs Institute Publicador: Joanna Briggs Institute
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
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BACKGROUND Influenza A (H1N1) recently became pandemic, highlighting the need for a cheap and accurate diagnostic test to diagnose this virus in a clinically relevant timeframe. The current reference standard (viral culture) requires a significant degree of technical expertise, laboratory time, resources and can take up to ten days to obtain a result, during which time there could be a significant spread of infection. OBJECTIVES To obtain summary estimates of the diagnostic accuracy of currently available laboratory tests compared to viral culture for the diagnosis of Influenza A (H1N1) from respiratory samples. INCLUSION CRITERIA TYPES OF PARTICIPANTS Patients presenting with influenza-like illnesses and who underwent both an index and reference test specific for influenza A (H1N1). FOCUS OF THE REVIEW The diagnostic test accuracy of tests for laboratory tests for Influenza A (H1N1) TYPES OF STUDIES Diagnostic test accuracy studies that compared the diagnostic accuracy of any laboratory test (index test) compared to viral culture as the reference test were considered for inclusion. SEARCH STRATEGY Diagnostic tests are still poorly indexed by major databases; therefore the search strategy was deliberately very broad and was conducted across 14 major databases during May 2010. METHODOLOGICAL QUALITY Methodological quality was determined using the QUADAS checklist. Overall the methodological quality of the studies was moderate...

Diagnostic value of serum hCG on the outcome of pregnancy of unknown location: a systematic review and meta-analysis

van Mello, N.; Mol, F.; Opmeer, B.; Ankum, W.; Barnhart, K.; Coomarasamy, A.; Mol, B.; van der Veen, F.; Hajenius, P.
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
Publicado em //2012 Português
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BACKGROUND The term ‘pregnancy of unknown location’ (PUL) refers to cases where a pregnancy test is positive but the pregnancy cannot be visualized by transvaginal sonography (TVS). Various strategies integrating TVS and serum hCG measures are used to follow-up until the location and/or viability of the pregnancy becomes clear; however, the optimal strategy to predict the outcome of pregnancy in women with PUL is unknown. Therefore, we performed a systematic review and meta-analysis to determine the diagnostic accuracy of the various serum hCG strategies in women with PUL. METHODS We searched Medline and EMBASE for articles which were published (in any language) from 1980 to January 2012 on strategies using serum hCG in women with PUL and reporting on the final outcome of pregnancy. RESULTS From 980 selected titles, 23 articles, all cohort studies, were included. There were 10 studies on a single serum hCG cut-off level, 4 on serum hCG ratio (hCG 48 h/hCG 0 h) and 6 on logistic regression modelling. Three other strategies were reported using serum hCG, serum progesterone and/or uterine curettage findings; each of these strategies comprised a single study. Comparative diagnostic studies have not been performed on the diagnostic value of serum hCG in women with PUL. Included studies showed substantial clinical heterogeneity in the definition of the outcome...

Individual patient data meta-analysis of diagnostic and prognostic studies in obstetrics, gynaecology and reproductive medicine

Broeze, K.; Opmeer, B.; Bachmann, L.; Broekmans, F.; Bossuyt, P.; Coppus, S.; Johnson, N.; Khan, K.; ter Riet, G.; van der Veen, F.; van Wely, M.; Mol, B.
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em //2009 Português
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Background: In clinical practice a diagnosis is based on a combination of clinical history, physical examination and additional diagnostic tests. At present, studies on diagnostic research often report the accuracy of tests without taking into account the information already known from history and examination. Due to this lack of information, together with variations in design and quality of studies, conventional meta-analyses based on these studies will not show the accuracy of the tests in real practice. By using individual patient data (IPD) to perform meta-analyses, the accuracy of tests can be assessed in relation to other patient characteristics and allows the development or evaluation of diagnostic algorithms for individual patients. In this study we will examine these potential benefits in four clinical diagnostic problems in the field of gynaecology, obstetrics and reproductive medicine. Methods/design: Based on earlier systematic reviews for each of the four clinical problems, studies are considered for inclusion. The first authors of the included studies will be invited to participate and share their original data. After assessment of validity and completeness the acquired datasets are merged. Based on these data, a series of analyses will be performed...

Identification of factors associated with diagnostic error in primary care

Minu??, Sergio; Berm??dez-Tamayo, Clara; Fern??ndez Ajuria, Alberto; Mart??n-Mart??n, Jos?? Jes??s; Ben??tez Hidalgo, Vivian; Melguizo, Miguel; Caro Mart??nez, Araceli; Orgaz, Mar??a Jos??; Prados, Miguel ??ngel; D??az, Jos?? Enrique; Montoro, Rafael
Fonte: Biomed Central Publicador: Biomed Central
Tipo: Artigo de Revista Científica
Português
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Background Missed, delayed or incorrect diagnoses are considered to be diagnostic errors. The aim of this paper is to describe the methodology of a study to analyse cognitive aspects of the process by which primary care (PC) physicians diagnose dyspnoea. It examines the possible links between the use of heuristics, suboptimal cognitive acts and diagnostic errors, using Reason???s taxonomy of human error (slips, lapses, mistakes and violations). The influence of situational factors (professional experience, perceived overwork and fatigue) is also analysed.; Methods Cohort study of new episodes of dyspnoea in patients receiving care from family physicians and residents at PC centres in Granada (Spain). With an initial expected diagnostic error rate of 20%, and a sampling error of 3%, 384 episodes of dyspnoea are calculated to be required. In addition to filling out the electronic medical record of the patients attended, each physician fills out 2 specially designed questionnaires about the diagnostic process performed in each case of dyspnoea. The first questionnaire includes questions on the physician???s initial diagnostic impression, the 3 most likely diagnoses (in order of likelihood), and the diagnosis reached after the initial medical history and physical examination. It also includes items on the physicians??? perceived overwork and fatigue during patient care. The second questionnaire records the confirmed diagnosis once it is reached. The complete diagnostic process is peer-reviewed to identify and classify the diagnostic errors. The possible use of heuristics of representativeness...

VALIDATING THE CANADIAN ACADEMIC ENGLISH LANGUAGE ASSESSMENT FOR DIAGNOSTIC PURPOSES FROM THREE PERSPECTIVES: SCORING, TEACHING, AND LEARNING

Doe, Christine
Fonte: Quens University Publicador: Quens University
Tipo: Tese de Doutorado
Português
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36.376838%
Large-scale assessments are increasingly being used for more than one purpose, such as admissions, placement, and diagnostic decision-making, with each additional use requiring validation regardless of previous studies investigating other purposes. Despite this increased multiplicity of test use, there is limited validation research on adding diagnostic purposes—with the intention of directly benefiting teaching and learning—to existing large-scale assessments designed for high-stakes decision-making. A challenge with validating diagnostic purposes is to adequately balance investigations into the score interpretations and the intended beneficial consequences for teachers and students. The Assessment Use Argument (AUA) makes explicit these internal and consequential validity questions through a two-stage validation argument (Bachman & Palmer, 2010). This research adopted the AUA to examine the appropriateness of the Canadian Academic English Language (CAEL) Assessment for diagnostic purposes, by forming a validity argument that asked, to what extent did the CAEL essay meet the new diagnostic scoring challenges from the rater perspective, and a utilization argument centered on teachers' and students’ uses of the diagnostic information obtained from the assessment. This study employed three research phases at an English for Academic Purposes (EAP) program in one Canadian university. Data collection strategies included interview and verbal protocol data from two raters (Phase 1)...

The Diagnostic Interval of Colorectal Cancer Patients in Ontario by Degree of Rurality

Hamilton, Leah
Fonte: Quens University Publicador: Quens University
Tipo: Tese de Doutorado
Português
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Background: Wait times while moving through the cancer diagnostic process are a public health concern. Rural populations may experience more challenges in accessing cancer care, which could translate into a longer diagnostic interval and represent a healthcare inequity. This project analyzed the association between rurality of residence and the diagnostic interval of colorectal cancer (CRC) patients in Ontario, Canada. Methods: This was a retrospective population-based cohort study. We used administrative databases available through the Institute for Clinical Evaluative Sciences (ICES) to identify incident CRC cases diagnosed from Jan 1, 2007- May 31, 2012. We assigned each patient a rurality score, based on their census subdivision, and calculated the length of their diagnostic interval. We defined the diagnostic interval as the time (in days) between a patient’s first diagnostic-related encounter with the health care system to the CRC diagnosis date. Data linkage through ICES allowed us to describe variations in cancer stage and the diagnostic interval by degree of rurality of patient residence and to analyze associations through multivariable models taking into account potential confounders. Results: Overall, the median diagnostic interval of the CRC cohort was 64 (IQR: 22-159) days and the 90th percentile was 288 days. Patients with stage I CRC had a longer median diagnostic interval than patients with stage IV CRC. Across rurality categories...

Association between Use of a Specialized Diagnostic Assessment Unit and the Diagnostic Interval in Ontario Breast Cancer Patients

Jiang, Li
Fonte: Quens University Publicador: Quens University
Tipo: Tese de Doutorado
Português
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Background: The amount of time that it takes to get a breast cancer diagnosis is very important to patients. The Ontario diagnostic assessment unit (DAU) is designed to improve the quality and timeliness of care during a breast cancer diagnosis. This study described and examined the association between the length of the diagnostic interval and DAU use in Ontario, Canada. Methods: This was a retrospective cohort study among all breast cancer patients diagnosed between Jan 1st, 2011 and Dec 31st, 2011 in Ontario, Canada. DAU use and diagnostic intervals were described. The association between DAU use and the diagnostic interval was examined separately in a cohort of 2499 screen-detected patients and a cohort of 4381 symptomatic patients. Study data sources included administrative databases available at the Institute for Clinical Evaluative Sciences (ICES) and Cancer Care Ontario (CCO). The diagnostic interval was defined as the time from the index contact to the cancer diagnosis. DAU use was determined based on the payment record within the organized screening program as well as the hospital where patients were diagnosed. Multivariate median regressions were used to control for possible confounders. Results: On average, Ontario breast cancer patients waited 4.6 weeks to be diagnosed. Forty-eight percent were diagnosed in a DAU and 52% were diagnosed in the usual care route. In screen-detected patients...

Perceptions de personnes atteintes de cancer quant au soutien offert par l'IPO dans la période entourant l'annonce du diagnostic

Dorval, Josée D.
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Thèse ou Mémoire numérique / Electronic Thesis or Dissertation
Português
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L’annonce d’un diagnostic de cancer devrait être considérée par les professionnels de la santé, comme un processus constitué de plusieurs étapes que doit traverser la personne atteinte, plutôt que comme un évènement en soi (Tobin & Begley, 2008). Lors de la période entourant l’annonce du diagnostic, la personne peut être confrontée à des difficultés reliées à la navigation dans un système de santé complexe, en plus des sentiments négatifs engendrés par la crainte de la maladie. Pour soutenir les personnes atteintes de cancer, le programme québécois de lutte contre le cancer (PQLCC), a instauré le rôle de l’infirmière pivot en oncologie (IPO) en 2000. À l’heure actuelle, peu d’études, à notre connaissance, se sont attardées au soutien de l’IPO dans cette période. La présente étude avait pour but, d’explorer les perceptions de personnes atteintes de cancer quant au soutien offert par l’IPO, dans la période entourant l’annonce du diagnostic. L’étudiante-chercheuse s’est inspirée du Cadre de soins de soutien de Fitch (1994) pour entreprendre cette étude qualitative descriptive. Des entrevues individuelles auprès de sept personnes atteintes de différents cancers ont été réalisées. L’analyse de données a été effectuée à l’aide de la méthode de Miles et Huberman (2003)...

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Geng, Juan; Picker, Jonathan; Zheng, Zhaojing; Zhang, Xiaoqing; Wang, Jian; Hisama, Fuki; Brown, David W; Mullen, Mary P; Harris, David; Stoler, Joan; Seman, Ann; Miller, David T; Fu, Qihua; Roberts, Amy E; Shen, Yiping
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Português
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Background: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients with CHD are routinely offered chromosomal microarray (CMA) testing, but the diagnostic yield of CMA on CHD patients has not been extensively evaluated based on a large patient cohort. In this study, we retrospectively assessed the detected CNVs in a total of 514 CHD cases (a 422-case clinical cohort from Boston Children's Hospital (BCH) and a 92-case research cohort from Shanghai Children’s Medical Center (SCMC)) and conducted a genotype-phenotype analysis. Furthermore, genes encompassed in pathogenic/likely pathogenic CNVs were prioritized by integrating several tools and public data sources for novel CHD candidate gene identification. Results: Based on the BCH cohort, the overall diagnostic yield of CMA testing for CHD patients was 12.8(pathogenic CNVs)-18.5% (pathogenic and likely pathogenic CNVs). The diagnostic yield of CMA for syndromic CHD was 14.1-20.6% (excluding aneuploidy cases), whereas the diagnostic yield for isolated CHD was 4.3-9.3%. Four recurrent genomic loci (4q terminal region, 15q11.2, 16p12.2 and Yp11.2) were more significantly enriched in cases than in controls. These regions are considered as novel CHD loci. We further identified 20 genes as the most likely novel CHD candidate genes through gene prioritization analysis. Conclusion: The high clinical diagnostic yield of CMA in this study provides supportive evidence for CMA as the first-line genetic diagnostic tool for CHD patients. The CNVs detected in our study suggest a number of CHD candidate genes that warrant further investigation. Electronic supplementary material The online version of this article (doi:10.1186/1471-2164-15-1127) contains supplementary material...

Diagnòstic genètic preimplantacional de malalties hereditàries fibrosi quística i hemofília /

Sánchez García, Jorge
Fonte: [Bellaterra] : Universitat Autònoma de Barcelona, Publicador: [Bellaterra] : Universitat Autònoma de Barcelona,
Tipo: Tesis i dissertacions electròniques; info:eu-repo/semantics/doctoralThesis Formato: application/pdf
Publicado em //2010 Português
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Descripció del recurs: el 24 de novembre de 2010; En les ultimes decades el diagnostic prenatal ha estat aplicat en parelles amb un risc elevat de transmetre una malaltia genetica a la seva descendencia. Aquesta tecnica implica que en cas de detectar un fetus afectat, els pares tenen dues alternatives: seguir endavant amb l'embaras (malgrat l'afectacio del fetus) o l'avortament terapeutic. Mes recentment, les tecniques de reproduccio assistida han permes una aproximacio molt mes primerenca que el prenatal, l'anomenat diagnostic genetic preimplantacional (DGP), que es basa en l'estudi de biopsies d'embrions, les quals ens permeten seleccionar unicament els embrions sans per a la seva transferencia a l'uter matern. El DGP requereix de fecundacio in vitro i pot ser aplicat en dos estadis diferents, en el primer corpuscle polar d'oocits madurs o en blastomers d'embrions. Per l'estudi d'anomalies cromosomiques en parelles portadores de reorganitzacions o en dones d'edat avansada s'apliquen tecniques d'hibridacio in situ fluorescent (FISH). En el cas de parelles portadores de malalties genetiques l'analisi es realitza basicament amb PCR (reaccio en cadena de la polimerasa) Les malalties genetiques estan causades per mutacions al seu gen responsable...

The Potential for Ultrasonic Image-Guided Therapy Using a Diagnostic System

Bing, Kristin Frinkley
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Dissertação Formato: 5492058 bytes; application/pdf
Publicado em 13/11/2008 Português
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Ultrasound can be used for a variety of therapeutic purposes. High-intensity focused ultrasound (HIFU) has progressed over the past decade to become a viable therapeutic method and is valuable as a non-invasive alternative to many surgical procedures. Ultrasonic thermal therapies can also be used to release thermally sensitive liposomes encapsulating chemotherapeutic drugs. In the brain, the permeability of the blood-brain barrier to drugs, antibodies, and gene transfer can be increased with a mechanical mechanism using ultrasound and contrast agent.

The work presented in this dissertation tests the hypothesis that a diagnostic system can be used for combined imaging and therapeutic applications. In order to evaluate the effectiveness of a diagnostic system for use in therapeutic applications, a set of non-destructive tests is developed that can predict the potential for high acoustic output. A rigorous, nondestructive testing regimen for standard, diagnostic transducers to evaluate their potential for therapeutic use is formulated. Based on this work, transducer heating is identified as the largest challenge. The design and evaluation of several custom diagnostic transducers with various modifications to reduce internal heating are described. These transducers are compared with diagnostic controls using image contrast...

Diagnostic use of procedures and measurements used during clinical lumbosacral radiculopathy examination according to the principles of evidence-based medicine: a systematic review; Utilidade diagnóstica dos procedimentos e medidas no exame clínico de radiculopatias lombossacrais segundo os princípios da Medicina Baseada em Evidências: revisão sistemática

Santos Filho, Carlos Souto dos; Sá, Eduardo Costa
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 11/09/2011 Português
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A importância da incorporação da Medicina Baseada em Evidência na capacidade dos testes e medidas clínicas em predizer diagnósticos de radiculopatias não pode ser menosprezada. A síndrome radicular lombossacral é auto-limitante na maioria dos casos e os sintomas desaparecem espontaneamente em semanas ou meses. Já a cronificação produz importante incapacidade física e laboral. Diante da falta de conhecimento técnico, fez-se uma revisão de literatura sobre a utilidade diagnóstica dos testes clínicos para esta patologia. Este estudo teve por objetivo pesquisar as melhores práticas médicas baseada em evidências científicas dos procedimentos e medidas no exame clínico e os critérios diagnósticos das radiculopatias lombossacrais, listar os testes mais utilizados, levantar as propriedades diagnósticas dos testes, além de avaliar a objetividade destes. Os autores realizaram uma discussão de 53 artigos selecionados nas bases de dados Medline, Web of Science, Embase, Scopus, Lilacs e SciELO, usando como descritores “Evidence-based Medicine”, “Diagnostic Techniques and Procedures”, “Radiculopathy”, “Lumbosacral Region”, “Diagnostic Tests”, “Nerve Compression Syndromes”, “Diagnostic Techniques...

Diagnostic Basic Elements for Quality Practices Implementation

Sánchez-Lara,B; Sánchez-Guerrero,G
Fonte: Facultad de Ingeniería, UNAM Publicador: Facultad de Ingeniería, UNAM
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/03/2009 Português
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This paper identifies the most relevant diagnostic elements that Mexican consultants use in order to know the current performance of micro, small and medium size enter prises (MSME) prior to a quality practice implementation and to estimate the probability of success of their intervention. In order to obtain the diagnostic basic elements we employed a web-based survey. In grouping of the diagnostic elements Howard and Associates integrated organizational diagnosis model, factor analysis and cluster analysis were used. Thirty four diagnostic basic elements and seven diagnostic categories were identified. We find about 90% of the consultants had made successful implementations in most of the times (75% to 100%) when using diagnostic elements.