Expert opinion on medical diagnostics最新文献

Introduction: The hallmark of neuroblastoma is its clinical and biological heterogeneity, with the likelihood of cure varying widely according to age at diagnosis, extent of disease and tumor biology. We hope this review will be useful for understanding part of the unfamiliar neuroblastoma codex.

Areas covered: In the first part of this review, the authors summarize the currently used prognostic factors for risk-adapted therapy, with the focus on clinical management of neuroblastoma patients. In the second part, the authors discuss the evolving prognostic factors for future treatment schemes. A search of online medical research databases was undertaken focusing especially on literature published in the last six years.

Expert opinion: Harnessing the synergy of the various forms of data, including clinical variables and biomarker profiles, would allow mathematical predictive models to be built for the individual patient, which could eventually become molecular targets of specific therapies.

There are many ways in which a diagnosis of Lynch syndrome can be made, most prominent of which is family history, presence of cancer, high microsatellite instability, immunohistochemistry, and a mismatch repair germline mutation. There are at least four molecular pathways for colorectal cancer carcinogenesis: 1) adenoma-carcinoma sequence; 2) hereditary microsatellite instability; 3) serrated pathway; 4) epidermal growth factor receptor. The answer to diagnosing Lynch syndrome in the absence of colorectal cancer may be partially based upon the phenotypic characteristics of the colonic polyps should they be identified at colonoscopy, specifically their phenotypic characteristics of location, size, histology, number, and age of polyp onset.

Objective: To evaluate serum anti-C1q antibodies as a biomarker of systemic lupus erythematosus (SLE) flare and as a proposed noninvasive alternative to renal biopsy which is still the "gold standard" to determine renal activity in SLE.

Methods: Serum anti-C1q antibodies were measured in our patients (all were females), they were followed at the nephrology and pediatric nephrology units at the Faculties of Medicine of Cairo University and Misr University for science and technology (MUST). Our study included 120 patients in the pediatric and adolescent age group and they were categorized into three groups with (mean ± SD of 16.7 ± 3, 16.1 ± 2, 15.9 ± 3) respectively: Group 1 including 40 patients with SLE and active lupus nephritis; Group 2 including 40 patients with SLE and without active lupus nephritis, but with some extra renal activity mainly arthritis; and Group 3 including 40 healthy subjects.

Results: Anti-C1q antibodies were found to be significantly higher in patients with active lupus nephritis than those without active nephritis than control individuals with a median (range) of [27.5 (14 - 83), 9 (2.5 - 30), 7 (2 - 13)] respectively. In those with active lupus nephritis, anti-C1q was found to correlate significantly with other parameters assessing lupus nephritis activity like C3 (r = -0.33, p < 0.04), C4 (r = -0.32, p < 0.044), daily urinary protein excretion (r = 0.32, p < 0.036), renal SLEDAI (r = 0.64, p < 0.001), and activity index (r = 0.71, p < 0.001).

Conclusions: Anti-C1q antibodies can be used as a considerable marker for LN activity in that age group with 97.5% sensitivity and 65% specificity with the cutoff level 12 U/l. These levels are clearly higher than those for traditional markers of disease activity such as C3/C4 consumption and anti-dsDNA.

Introduction: Acute aortic syndrome (AAS) is an acute lesion of the aortic wall involving the aortic media. In patients presenting with AAS, establishing a timely diagnosis is of paramount importance as mortality from AAS increases by 1 - 2% per hour. Acute aortic syndrome comprises a variety of pathologically distinct life-threatening conditions such as aortic dissection, intramural hematoma (IMH) of the aorta, penetrating aortic ulcer (PAU), traumatic transection and symptomatic aortic aneurysm.

Areas covered: The aim of this article was to review recent progress in the diagnosis and therapeutic management of these syndromes. In the past few years, imaging techniques have increased our understanding of the natural history of these disease entities. Patients presenting with AAS require immediate diagnosis in order to rapidly initiate adequate therapeutic measures. Diagnostic imaging modalities that can be used for diagnosing this condition are transthoracic and transesophageal echocardiography (TTE and TEE, respectively), computed tomography angiography (CTA), magnetic resonance imaging and angiography in combination with intravascular ultrasound (IVUS).

Expert opinion: Patients presenting with AAS require immediate diagnosis for rapid initiation of adequate therapeutic measures. The best method to correctly diagnose acute aortic dissection and its complications is complementary use of CTA, TEE and angiography in combination with IVUS to improve visualization of aortic syndromes and to guide aortic stent graft implantation.

Introduction: Methicillin-resistant Staphylococcus aureus (MRSA) is among the most common causes of community- and healthcare-acquired infections, accounting for > 80,000 invasive infections in the United States in 2010 according to the Center for Disease Control and Prevention's Active Bacterial Core Surveillance data. Control and treatment of MRSA depend on reliable identification, which is challenging. This article reviews the current status of detection and identification of MRSA.

Areas covered: Publications since 2001, guidelines from the Clinical Laboratory Standards Institute and the European Committee on Antimicrobial Susceptibility Testing, common microbiology laboratory practices for identification and characterization of MRSA in human samples, and recent publications that assessed patient care outcomes of various detection and intervention strategies were surveyed for this review.

Expert opinion: Given the predilection of Staphylococcus aureus to modify its genetic characteristics, thereby enabling the species to stay one step ahead of laboratory detection systems, phenotypic methods for detection of antibiotic resistance mechanisms, especially those directed against the beta-lactam family, will continue to be required, in some situations, for the foreseeable future. Molecular methods are now the gold standard for surveillance, yielding higher sensitivity than the slower, culture-based methods. The newer molecular surveillance methods for detecting methicillin-resistant S. aureus (MRSA) colonization and for rapid and accurate identification of S. aureus from growth in culture systems have revolutionized patient care, enabling rapid interventions that lead to better individual patient outcomes, such as fewer postsurgical site infections, and better overall institutional infection control (fewer healthcare-associated MRSA infections).

Introduction: Multiple sclerosis (MS) is a disease of the central nervous system (CNS) that leads to axonal dysfunction and neuronal loss and often presents optic neuritis (ON). Decreased thickness of the retinal nerve fiber layer (RNFL) is a classic finding on ophthalmoscopic examination of patients with MS and especially noted in those patients with a history of ON. The thickness of the RNFL can be measured by a non-invasive technique, optical coherence tomography (OCT).

Areas covered: This review will cover the history and development of the OCT technology and the advantages of a potential clinical application as a biomarker for axonal loss in MS.

Expert opinion: The use of OCT to quantify axonal loss in the RNFL is a promising tool to evaluate disease progression in MS and ON patients. OCT measurements may also correlate with MRI measured brain atrophy and could provide an easily quantified and highly reproducible method in clinical trials to monitor the efficacy of both immune- and neuroprotective therapies. Potential correlations between OCT with other biomarkers that include low contrast vision, visual evoked potentials, color vision and diffusion tensor imaging of the brain and advanced imaging of the optic nerve are promising new frontiers of research.

Introduction: This review addresses the pulmonary manifestations of the vasculitides, with a focus on diagnostic modalities. Haemorrhagic presentations (usually associated with nephritis: the pulmonary-renal syndrome) are the most common vasculitic cause of early death.

Areas covered: The diagnostic modalities in the pulmonary vasculitides are reviewed, with a focus on primary systemic vasculitis. A literature search of original research and review articles on pulmonary vasculitides was undertaken using the PubMed database.

Expert opinion: Small-vessel anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, especially granulomatosis with polyangiitis (Wegener's granulomatosis) are the most frequent causes of pulmonary vasculitis and typically present as nodules, alveolar infiltrates (haemorrhagic or not), cavities or tracheobronchial stenosis. Lung involvement is less common in large-vessel vasculitis when pulmonary vascular abnormalities can be seen. No single test is pathogonomonic and diagnosis requires integration of clinical, laboratory, imaging and histological findings. Treatment follows similar regimens to other vasculitic presentations, with glucocorticoids in conjunction with immunosuppressive agents, and management of intercurrent sepsis and the increased risk of cardiovascular and thromboembolic events. Prompt diagnosis and intensive treatment of pulmonary vasculitis is essential to improve early mortality and long-term outcomes.

Introduction: Newly developed non-invasive prenatal diagnostic techniques, using maternal blood samples, have the potential to reduce or obviate the need for invasive prenatal diagnostic practices such as amniocentesis or chorionic villous sampling. This will lead to a change in how obstetric care is extended by health care providers to pregnant women at-risk of bearing an aneuploid child.

Areas covered: The process leading to the development of fetal aneuploidy detection via the analysis of cell-free DNA in maternal plasma by massive parallel sequencing. Optimization of these strategies and approaches used in the recent or up-coming commercial launches. In addition, this review provides insight into legal implications, potential patent disputes, ethical and societal concerns raised by this development, such as whole genome data storage, retrieval and access.

Expert opinion: There is a need for engagement by professional societies, to ensure correct usage of these newly emerging technologies and their restriction to high-risk pregnancies. National agencies need to ensure the necessary degree of high quality required for prenatal diagnosis.

Introduction: Traumatic brain injury (TBI) is a major cause of death and disability worldwide. Improved understanding of the impact of head injury and the extent and development of neuronal loss and cognitive dysfunction could lead to improved therapy and outcome for patients.

Areas covered: This paper reviews the currently available imaging techniques and defines their role in the diagnosis, management and prediction of outcome following traumatic brain injury. These imaging techniques provide delineation of the structural, physiological and functional derangements that result following acute injury, and map their development and association with late functional deficits. Imaging tools also have a role in defining the pathophysiological mechanisms responsible for further neuronal loss following the primary injury. Finally, this paper provides an overview of the role of functional imaging in classifying unresponsive coma and defining functional reorganisation of the brain following injury.

Expert opinion: Brain imaging is of key importance in TBI management, enabling efficient and accurate diagnoses to be made, informing management decisions and contributing to prognostication. Developments in imaging techniques promise to improve understanding of the structural and functional derangements, improve management and guide the development and implementation of novel neuroprotective strategies following head injury.

Introduction: With the obesity burden, non-alcoholic fatty liver disease (NAFLD) is present in 20 - 30% of the general population. Few NAFLD patients will develop end-stage liver disease, for which the main predictor is the liver fibrosis stage. It is thus mandatory to evaluate liver fibrosis in NAFLD patients to determine their liver-related prognosis.

Areas covered: Here the authors discuss the various options available for liver fibrosis diagnosis in clinical practice in NAFLD patients. At present, liver biopsy remains the reference examination. In the past decade, several non-invasive fibrosis tests, for example, elastography techniques or blood tests, have been developed and evaluated for the diagnosis of liver fibrosis in NAFLD. Their accuracy, advantages and limitations will be discussed.

Expert opinion: Liver biopsy, an invasive procedure, is not appropriate for routine fibrosis evaluation and follow-up in the large population of NAFLD patients. Non-invasive fibrosis tests are accurate tools to evaluate liver fibrosis and thus identify at-risk patients for liver-related complications. They represent an exciting research field as further studies are required to definitively validate their diagnostic and prognostic utility.