Expert opinion on medical diagnostics最新文献

Introduction: Proteins not present in normal cells, that is, cancer cells, may elicit a host immune response that leads to the generation of antibodies that might react with these tumor-associated proteins. In recent years, a growing number of reports have showed that autoantibody profiling may provide an alternative approach for the detection of cancer. However, most studies of antigen-autoantibody reactivity have relied on recombinant proteins. Recombinant proteins lack the proper post-translational modifications present in native proteins. Because of this limitation, native or natural protein antigen microarrays are gaining popularity for profiling antibody responses.

Areas covered: i) To illustrate some examples of autoantibodies as signatures for early stage cancer; ii) to briefly outline the various protein antigen microarray platforms; iii) to illustrate the use of native or natural protein microarrays in the discovery of potential biomarkers and iv) to discuss the advantages of native protein antigen microarrays over other approaches.

Expert opinion: The nature of protein microarray platforms is conducive to multiplexing, which amplifies the potential for uncovering effective biomarkers for many significant diseases. However, the major challenge will be in integrating microarray platforms into multiplexed clinical diagnostic tools, as the main drawback is the reproducibility and coefficient of variation of the results from array to array, and the transportability of the array platform to a more automatable platform.

Introduction: Current management of sepsis relies on the early detection and early administration of antimicrobials. This requires detection of pathogens earlier than conventional blood cultures and recognition of the immune status of the host earlier than the conventional biomarkers. This can be achieved by molecular techniques.

Areas covered: Molecular diagnosis of pathogens is based on either rapid detection of pathogens grown in blood cultures or direct use of whole blood and blood products. Molecular diagnosis of the constellation of activations and inhibitions of pathways implicated in cellular processes can be achieved by gene profiling of a large array of genes.

Expert opinion: Molecular microbial diagnosis enables rapid identification and precedes results obtained by conventional culture methods. Its role can be proved more useful in sepsis caused by specific microorganisms such as fungi performed by PMA-FISH and MALDI-TOF MS. Molecular techniques using blood aim for rapid pathogen identification. However, the provided information regarding the antimicrobial susceptibility of the pathogen is limited. Gene profiling in sepsis provides individualized information for the activation or inhibition of pathways of a variety of cellular processes. The transcriptome information is difficult to interpret in everyday clinical practice particularly on how information translates to patient needs.

Advances in medical ultrasound have made the modality widely applicable and the new cart-based and pocket size devices have allowed for relevant point-of-care (POC) ultrasound examinations in many medical specialties. POC ultrasonography is performed as a real-time examination assisting the physician in diagnosis, procedure or screening of the patient without life threatening delays. The examination can be performed at the bedside or wherever the patient may be present. Structured and focused protocols for simple clinical questions have been developed and implemented in the following specialties: Anesthesiology, Cardiology, Critical Care Medicine, Dermatology, Emergency Medicine, Neonatology, Gynecology and Rheumatology and many others. POC ultrasound, as well as ultrasound in general, is very user dependent and the need for quality assurance, formal education and practical training is obvious. With this in mind, POC ultrasound now really has the potential for becoming the physician's new personal universal examination tool. Patients admitted to emergency departments will be able to receive organ or symptom-guided initial focused ultrasound triage as part of the physician's first encounter with the patient. This will allow for more accurate referral, correct diagnosis and relevant screening in turn leading to better overall treatment results.

Background: Noncompaction cardiomyopathy (NCCM) is a new pathoanatomic entity, disputably believed to result from abnormal arrest in embryonic endomyocardial morphogenesis. During almost three decades of research of NCCM, more knowledge has developed alongside diagnostic uncertainties and precise definition. In this article, we present these uncertainties and provide perspectives on how to overcome these challenges.

Areas covered: The uncertainties, about NCCM regarding nomenclature, classification, pathophysiology, and limitations of the current diagnostic criteria will be reviewed. The application of newer imaging modalities will be contrasted in relation to conventional assessments. Finally, future aspirations will be outlined providing a more thoughtful appraisal toward NCCM diagnosis.

Expert opinion: Our current understanding of NCCM is limited by heterogeneity of disease spectrum and phenotype-genotype overlap with other cardiac anomalies. Selection bias, small sampling, and retrospective nature limit most of published studies on NCCM. There are three main research fields related to NCCM: pathoanatomic studies, imaging studies, and genetic screening. Besides conventional echocardiography, imaging should include both structural (cardiac MRI, contrast and 3D echocardiography) and functional diagnosis using deformation imaging. These research aspects should be integrated in a collaborative international registry of nonselective populations in order to achieve better understanding and optimal diagnosis of NCCM. Moreover, it holds the promise of the detection of earlier stages of disease. A clear pathoanatomic cut-off definition of NCCM should be the initial step toward uniform imaging diagnosis.

INTRODUCTION: Lung cancer is the leading cause of cancer death worldwide, due to its late diagnosis and poor outcome. MicroRNAs (miRNAs) are small non-coding RNAs that regulate gene expression at the posttranscriptional levels by either degrading or blocking translation of messenger RNA targets. Accumulating evidence indicates that miRNAs play a pivotal role in the development and progression of human malignancies, including lung cancer. AREAS COVERED: In this review, the authors focus on 1) application of miRNA-based biomarkers to help classify lung cancer, 2) application of the miRNA biomarkers for the early detection of lung cancer, and 3) use of miRNAs as biomarkers to predict outcomes of lung cancer. EXPERT OPINION: MiRNAs provide promising biomarkers for the diagnosis and prognosis of lung cancer. The developed miRNA biomarkers should be comprehensively and prospectively validated in clinical trials before being used in laboratory settings.

INTRODUCTION: Anorexia and bulimia nervosa are severe psychiatric disorders and the availability of brain imaging techniques hold promise that those techniques will be useful in clinical practice. AREAS COVERED: In this review I describe currently available brain imaging techniques and focus on the brain imaging methods functional magnetic resonance imaging (fMRI) and positron emission tomography (PET). Those techniques have helped describe alterations in brain circuitry in AN and BN that related to anxiety and reward processing. Novel computational models help further define brain function in relation to particular neurotransmitters. EXPERT OPINION: Brain imaging techniques are exciting methods to learn about brain function and progress has been made to identify in healthy populations brain circuits that code behaviors. These techniques have been used in AN and BN over the past decade and have improved our understanding of brain function in those disorders. Still, human brain imaging is not at a point yet where it could be used diagnostically. However, with the refinement of imaging hardware as well as improved models that describe brain function we will get closer to our aims to not only better understand the neurobiology of those disorders, but predict illness development, treatment response and long term prognosis.

Introduction: The early determination of serious pathologies has so far been an important issue in both the medical and social fields. The search for an instrument able to detect cancers has led to the consideration of the usage of chemicals of the human body, which carry, through its volatile compounds, information coming from or related to defined pathologies.

Areas covered: The electronic nose (EN) seems to represent a good solution for the detection of cancers of different types. Recent results showed the utility of an EN to smell chemicals related to lung, melanoma, prostatic, breast and pancreatic cancers. The results obtainable from ENs are chemical images and, as it will be shown in this paper, the probability of cancer recognition is rather high. Main results obtained at international level and by the authors of this paper will be commented upon.

Expert opinion: A personal opinion is given trying to foresee future developments of the olfaction strategy. To this purpose, two main aspects are considered: looking for better overall stability of the EN and for a new use of ENs in detecting alterations between blood and pathology components.

The detection of circulating tumor cells (CTCs) may have important prognostic and therapeutic implications; therefore, we expect a broader range of tumor types in which CTC detection and count will routinely be conducted in the coming years. This article evaluates the application of CTC as a potentially useful diagnostic and prognostic test in malignant pleural mesothelioma (MMe). MMe is a rare but increasingly prevalent, highly aggressive asbestos exposure-related tumor. MMe develops after long time latency, is rarely diagnosed at early stages, is poorly sensitive to conventional treatments and presents a very short survival upon diagnosis. Pursuing research of CTC in MMe can represent a very important task for all the clinical and preclinical scientists working on blood biomarkers of this tumor. Possibly in combination with other diagnostic tools, such as a thoracoscopy and advanced imaging, CTC can represent a promising tool for MMe prognosis and follow-up. Further studies to confirm value of CTC test in MMe are warranted.

Introduction: Spinal tumors comprise a biologically heterogeneous group of neoplasms associated with different treatment strategies and varying prognoses. The accurate diagnosis of these tumors is, therefore, imperative to direct appropriate patient care. Here, the authors review established and emerging tools in the fields of diagnostic imaging and pathology for the assessment of spinal tumors.

Areas covered: An approach to standard diagnostic imaging modalities such as plain radiographs, computed tomography, magnetic resonance imaging and angiography is discussed with emphasis on the application of emerging methods such as diffusion tensor imaging, and magnetic resonance spectroscopy to the diagnosis of spinal tumors. Tissue-based diagnostic approaches, including histology and immunohistochemistry, are also reviewed, with a discussion of future trends in the fields of genetics and molecular biology. The authors additionally summarize classical findings of common spinal tumors.

Expert opinion: With the appropriate clinical suspicion, numerous complementary tools are used to facilitate the diagnosis of spinal tumors. Increasing knowledge of tumor biology and better discrimination of tumor subtypes will continue to play a significant role in guiding patient-specific treatment decisions.

Neuropathic pain complicates many diseases of the peripheral and central nervous system and is frequently encountered in clinical practice. The mechanisms underlying its occurrence and chronification remain poorly understood. As a consequence, symptomatic treatment is frequently the only available therapeutic option. An appropriate diagnostic workup is an important prelude to treatment. Moreover, identification of the site of damage in the somatosensory pathway represents a mandatory step in the process of deciding on a disease-modifying therapy for any given patient. The recent revision of the definition of neuropathic pain has introduced the concept of a nosologic-based approach to the diagnosis, which is expected to be supported by the demonstration of a relationship between the clinical picture and a lesion or disease. This underscores the need for precise diagnostic assessment of the patient. In the last decade, a number of tools including validated scales, psychophysical tests and morphometric analysis of small nerve fibers carrying thermal and nociceptive sensation have been developed; these can provide important information about the quality and intensity of the multiple features that characterize neuropathic pain. More recently, advances on the recognition of a molecular substrate for neuropathic pain, both in terms of susceptibility and novel gene mutations, have provided the potential for new diagnostic perspectives and a path toward a better comprehension of the pathogenetic mechanisms. This editorial addresses briefly the impact of these developments on the diagnosis of neuropathic pain in clinical practice.