The necessary shift from diagnostic to prognostic research

Background: Do doctors really need to establish an etiological diagnosis each time a patient presents? Or might it often be more effective to treat simply on the basis of symptoms and signs alone, relying on research and on our experience of outcomes for patients who presented in similar ways in the past? Discussion: At a time of increase health care costs especially in pharmaceuticals and expensive diagnostic tests, this article uses examples from recent research to address this question. Our examples come from general practice, because that is where doctors frequently see patients presenting with a yet undifferentiated disease which is consequently difficult to diagnose. The examples include respiratory tract infections, low back pain and shoulder pain. Finally we discuss the 'something is wrong' feeling. Summary: We conclude that, in addition to diagnostic research, a renewed focus on prognostic research is needed. </p

GPs' reasons for referral of patients with chest pain: a qualitative study

<p>Abstract</p> <p>Background</p> <p>Prompt diagnosis of an acute coronary syndrome is very important and urgent referral to a hospital is imperative because fast treatment can be life-saving and increase the patient's life expectancy and quality of life. The aim of our study was to identify GPs' reasons for referring or not referring patients presenting with chest pain.</p> <p>Methods</p> <p>In a semi-structured interview, 21 GPs were asked to describe why they do or do not refer a patient presenting with chest pain. Interviews were taped, transcribed and qualitatively analysed.</p> <p>Results</p> <p>Histories of 21 patients were studied. Six were not referred, seven were referred to a cardiologist and eight to the emergency department. GPs' reasons for referral were background knowledge about the patient, patient's age and cost-benefit estimation, the perception of a negative attitude from the medical rescue team, recent patient contact with a cardiologist without detection of a coronary disease and the actual presentation of signs and symptoms, gut feeling, clinical examination and ECG results.</p> <p>Conclusion</p> <p>This study suggests that GPs believe they do not exclusively use the 'classical' signs and symptoms in their decision-making process for patients presenting with chest pain. Background knowledge about the patient, GPs' personal ideas and gut feeling are also important.</p

Incident somatic comorbidity after psychosis: Results from a retrospective cohort study based on Flemish general practice data

Background: Psychotic conditions and especially schizophrenia, have been associated with increased morbidity and mortality. Many studies are performed in specialized settings with a strong focus on schizophrenia. Somatic comorbidity after psychosis is studied, using a general practice comorbidity registration network. Methods. Hazard ratios are presented resulting from frailty models to assess the risk of subsequent somatic disease after a diagnosis of psychosis compared to people without psychosis matched on practice, age and gender. Diseases studied are cancer, physical trauma, diabetes mellitus, gastrointestinal disorders, joint disorders, irritable bowel syndrome, general infections, metabolic disorders other than diabetes, hearing and vision problems, anemia, cardiovascular disease, alcohol abuse, lung disorders, mouth and teeth problems, sexually transmitted diseases. Results: Significant higher risks after a diagnosis of psychosis were found for the emergence of diabetes, physical trauma, gastrointestinal disorders, alcohol abuse, chronic lung disease and teeth and mouth problems. With regard to diabetes, by including the type of antipsychotic medication it is clear that the significant overall effect was largely due to the use of atypical antipsychotic medication. No significant higher risk was seen for cancer, joint conditions, irritable bowel syndrome, general infections, other metabolic conditions, hearing/vision problems, anaemia, cardiovascular disease or diabetes, in case no atypical antipsychotic medication was used. Conclusion: Significantly higher morbidity rates for some somatic conditions in patients with psychosis are apparent. People with a diagnosis of psychosis benefit from regular assessments for the emergence of somatic disorders and risk factors, including diabetes in case of atypical antipsychotic medication

Diagnosing dementia: No easy job

<p>Abstract</p> <p>Background</p> <p>From both clinical experience and research we learned that in complex progressive disorders such as dementia, diagnosis includes multiple steps, each with their own clinical and research characteristics.</p> <p>Discussion</p> <p>Diagnosing starts with a trigger phase in which the GP gradually realizes that dementia may be emerging. This is followed by a disease-oriented diagnosis and subsequently a care -oriented diagnosis. In parallel the GP should consider the consequences of this process for the caregiver and the interaction between both. As soon as a comprehensive diagnosis and care plan are available, monitoring follows.</p> <p>Summary</p> <p>We propose to split the diagnostic process into four diagnostic steps, followed by a monitoring phase. We recommend to include these steps when designing studies on screening, diagnosis and monitoring of patients with dementia and their families.</p

Implementing evidence-based medicine in general practice: a focus group based study

BACKGROUND: Over the past years concerns are rising about the use of Evidence-Based Medicine (EBM) in health care. The calls for an increase in the practice of EBM, seem to be obstructed by many barriers preventing the implementation of evidence-based thinking and acting in general practice. This study aims to explore the barriers of Flemish GPs (General Practitioners) to the implementation of EBM in routine clinical work and to identify possible strategies for integrating EBM in daily work. METHODS: We used a qualitative research strategy to gather and analyse data. We organised focus groups between September 2002 and April 2003. The focus group data were analysed using a combined strategy of 'between-case' analysis and 'grounded theory approach'. Thirty-one general practitioners participated in four focus groups. Purposeful sampling was used to recruit participants. RESULTS: A basic classification model documents the influencing factors and actors on a micro-, meso- as well as macro-level. Patients, colleagues, competences, logistics and time were identified on the micro-level (the GPs' individual practice), commercial and consumer organisations on the meso-level (institutions, organisations) and health care policy, media and specific characteristics of evidence on the macro-level (policy level and international scientific community). Existing barriers and possible strategies to overcome these barriers were described. CONCLUSION: In order to implement EBM in routine general practice, an integrated approach on different levels needs to be developed

Signs and symptoms in children with a serious infection: a qualitative study

BACKGROUND: Early diagnosis of serious infections in children is difficult in general practice, as incidence is low, patients present themselves at an early stage of the disease and diagnostic tools are limited to signs and symptoms from observation, clinical history and physical examination. Little is known which signs and symptoms are important in general practice. With this qualitative study, we aimed to identify possible new important diagnostic variables. METHODS: Semi-structured interviews with parents and physicians of children with a serious infection. We investigated all signs and symptoms that were related to or preceded the diagnosis. The analysis was done according to the grounded theory approach. Participants were recruited in general practice and at the hospital. RESULTS: 18 children who were hospitalised because of a serious infection were included. On average, parents and paediatricians were interviewed 3 days after admittance of the child to hospital, general practitioners between 5 and 8 days after the initial contact. The most prominent diagnostic signs in seriously ill children were changed behaviour, crying characteristics and the parents' opinion. Children either behaved drowsy or irritable and cried differently, either moaning or an inconsolable, loud crying. The parents found this illness different from previous illnesses, because of the seriousness or duration of the symptoms, or the occurrence of a critical incident. Classical signs, like high fever, petechiae or abnormalities at auscultation were helpful for the diagnosis when they were present, but not helpful when they were absent. CONCLUSION: behavioural signs and symptoms were very prominent in children with a serious infection. They will be further assessed for diagnostic accuracy in a subsequent, quantitative diagnostic study

The importance of imprinting in the human placenta.

As a field of study, genomic imprinting has grown rapidly in the last 20 years, with a growing figure of around 100 imprinted genes known in the mouse and approximately 50 in the human. The imprinted expression of genes may be transient and highly tissue-specific, and there are potentially hundreds of other, as yet undiscovered, imprinted transcripts. The placenta is notable amongst mammalian organs for its high and prolific expression of imprinted genes. This review discusses the development of the human placenta and focuses on the function of imprinting in this organ. Imprinting is potentially a mechanism to balance parental resource allocation and it plays an important role in growth. The placenta, as the interface between mother and fetus, is central to prenatal growth control. The expression of genes subject to parental allelic expression bias has, over the years, been shown to be essential for the normal development and physiology of the placenta. In this review we also discuss the significance of genes that lack conservation of imprinting between mice and humans, genes whose imprinted expression is often placental-specific. Finally, we illustrate the importance of imprinting in the postnatal human in terms of several human imprinting disorders, with consideration of the brain as a key organ for imprinted gene expression after birth

STARD 2015: An Updated List of Essential Items for Reporting Diagnostic Accuracy Studies.

Incomplete reporting has been identified as a major source of avoidable waste in biomedical research. Essential information is often not provided in study reports, impeding the identification, critical appraisal, and replication of studies. To improve the quality of reporting of diagnostic accuracy studies, the Standards for Reporting of Diagnostic Accuracy Studies (STARD) statement was developed. Here we present STARD 2015, an updated list of 30 essential items that should be included in every report of a diagnostic accuracy study. This update incorporates recent evidence about sources of bias and variability in diagnostic accuracy and is intended to facilitate the use of STARD. As such, STARD 2015 may help to improve completeness and transparency in reporting of diagnostic accuracy studies

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldPreviously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.info:eu-repo/grantAgreement/EC/FP7/21807