Expert Opinion on Medical Diagnostics

INTRODUCTION: The imaging evaluation of pulmonary nodules, often incidentally detected on imaging examinations performed for other clinical reasons, is a frequently encountered clinical circumstance. With advances in imaging modalities, both the detection and characterization of pulmonary nodules continue to evolve and improve. AREAS COVERED: This article will review the imaging modalities used to detect and diagnose benign and malignant pulmonary nodules, with a focus on computed tomography (CT), which continues to be the mainstay for evaluation...

INTRODUCTION: IgA nephropathy, the most prevalent glomerular disease in the world, requires a renal biopsy for diagnosis. Reliable biomarkers are needed for the non-invasive diagnosis of this disease and to more fully delineate its natural history and risk for progression. AREAS COVERED: In this review, the authors examine serum levels of galactose-deficient IgA1 (Gd-IgA1) and glycan-specific IgG and IgA autoantibodies that are integral to pathogenesis of IgA nephropathy...

INTRODUCTION: High-throughput molecular profiling is transforming long-standing conceptions of diffuse gliomas, the most common primary brain tumors. Indeed, comprehensive genomic, transcriptomic and epigenomic analyses have not only provided striking mechanistic insights into the pathogenesis of diffuse gliomas but also greatly enriched the pool of potential biomarkers for prognostic and predictive patient stratification. AREAS COVERED: This article summarizes significant recent developments in the molecular characterization of diffuse gliomas, focusing on implications for biomarker development and application...

INTRODUCTION: Fabry disease (FD) is an X-linked disorder of glycosphingolipid metabolism caused by deficiency of the lysosomal enzyme alpha galactosidase A. Clinical features include neuropathic pain, rash, proteinuria renal failure, stroke and cardiomyopathy accompanied by a reduced life expectancy. Patients report an average delay of > 10 years between symptom onset and diagnosis. Newborn screening studies suggest a much higher prevalence than that found on population studies supporting the notion that FD is under-diagnosed...

INTRODUCTION: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with heterogeneous manifestations. Of particular importance for clinicians are the precise assessment of disease activity and the ability to make appropriate therapeutic decisions. Therefore, interest has increased in biomarkers that can be measured as indicators of pathogenic processes, disease activity and response to management. AREAS COVERED: This article introduces well-studied, as well as newly discovered, biomarkers related to SLE, divided into categories for diagnosis, disease activity and organ involvement...

INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is a leading cause of death worldwide and this burden is predicted to increase unless exposure to risk factors is addressed. Diagnosis of COPD is a challenge: COPD is underdiagnosed and frequently misdiagnosed for asthma or other respiratory conditions. Although spirometry is only one parameter for establishing a clinical diagnosis of COPD, lack of routine spirometry is a key cause of COPD misdiagnosis. Differential diagnosis from asthma is essential because the treatment strategies for, and progression and outcomes of, the two conditions vary greatly...

INTRODUCTION: This article provides an overview of actual biomarkers with an impact on improvement of diagnosis and treatment of esophageal cancer patients. AREAS COVERED: Recent literature has been analyzed and provides information regarding the potential role of molecular markers as a diagnostic or prognostic factor in esophageal cancer. EXPERT OPINION: Until now, the role of molecular markers is far from being firmly established for routine use and is not without obstacles...

OBJECTIVE: Self-monitoring of blood glucose is a key element in diabetes management. Accurate and precise performance of blood glucose monitors (BGMs) ensures that valid values are obtained to guide treatment decisions by patients and physicians. BGStar and iBGStar are hand-held BGMs that use dynamic electrochemistry to correct for potential interferences and thereby minimize system errors. RESEARCH DESIGN AND METHODS: A single-center, in vitro diagnostic device performance evaluation with heparinized oxygenated venous blood samples (intra-assay precision) and control solutions (interassay precision) was performed in a laboratory setting, comparing BGStar and iBGStar with 12 competitors...

INTRODUCTION: Kaposi's sarcoma (KS) is a vascular neoplasm with distinct clinical-epidemiological subtypes and varied clinical presentations. While the association of KS with human herpesvirus-8 (HHV8, KSHV) infection is well known, additional factors are needed for tumorigenesis. The precise sequence of events involved in KS development, progression and regression continues to be investigated. The discovery of KSHV biomarkers is helpful for diagnostic purposes, for understanding KS pathogenesis and for identifying potential druggable targets...

INTRODUCTION: Skeletal muscle channelopathies are rare disorders of muscle membrane excitability. Their episodic nature may result in diagnostic difficulty and delays in diagnosis. Advances in diagnostic clinical electrophysiology combined with DNA-based diagnosis have improved diagnostic accuracy and efficiency. Ascribing pathogenic status to identified genetic variants in muscle channel genes may be complex and functional analysis, including molecular expression, may help with this...

INTRODUCTION: Coeliac disease is an autoimmune condition resulting from an abnormal reaction to dietary gluten leading to small bowel villous atrophy. International prevalence studies suggest that coeliac disease affects 1% of the adult population. However, despite its high prevalence, large numbers of patients go undiagnosed. One method of increasing detection rates would be to introduce a quick screening test in the form of a finger-prick blood test. AREAS COVERED: There are currently four available point-of-care tests (POCTs) available for use by health professionals...

INTRODUCTION: The worldwide incidence of biliary tract carcinoma (BTC, tumours of the bile ducts and gall-bladder) continues to rise, with the only potentially curative treatment remaining surgical resection or transplantation, possible in only a minority of patients. Late presentation and a paucity of effective treatments mandate the development of techniques for early lesion detection. AREAS COVERED: This article reviews currently available biomarkers for the diagnosis and prognosis of BTC, as well as recently published studies describing novel serum, bile and urinary biomarkers...

INTRODUCTION: Biochemical diagnosis of acromegaly relies on measurement of insulin-like growth factor-1 (IGF-1) and growth hormone (GH). An elevated IGF-1 level above the age- and gender-specific normal range and nonsuppression of GH to oral glucose load to a nadir < 0.4 ng/ml in sensitive assays are currently considered diagnostic of acromegaly. Lack of normative data for both IGF-1 and GH across a wide range of populations and ethnicities, interassay and intraassay laboratory variability, pulsatility of GH secretion, and effects of medications and hormones may confound interpretation of these biochemical tests...

BACKGROUND: Women suspecting pregnancy need an accurate result when they conduct a home pregnancy test. A variety of tests are available from simple professional style strips to midstream tests with a digitally displayed result. However, it is not known whether all these formats can be used and read correctly by untrained women. OBJECTIVES: The aim of this study is to evaluate usability and reading accuracy of home pregnancy test formats. METHODS: Female volunteers, 18 - 45 years (Manchester, UK) completed questionnaires on their home-use experience of six pregnancy tests (strip, cassette, midstream visual and digital formats)...

INTRODUCTION: Computed tomography (CT) has become key for patient management due to its outstanding capabilities for detecting disease processes and assessing treatment response, which has led to expansion in CT imaging for diagnostic and image-guided therapeutic interventions. Despite these benefits, the growing use of CT has raised concerns as radiation risks associated with radiation exposure. AREAS COVERED: The purpose of this article is to familiarize the reader with fundamental concepts of dose metrics for assessing radiation exposure and weighting radiation-associated risks...

INTRODUCTION: Personalized medicine based on tumor characteristics is transforming the management of lung cancer. This review provides an overview of clinically approved strategies to personalize treatment for lung cancer as well as evolving strategies in various stages of clinical development. AREAS COVERED: Selecting therapy based on various tumor characteristics such as histology and presence of specific molecular alterations will be covered. This review will not only discuss the role of targeted agents in personalizing care for lung cancer but also the strategies to personalize traditional chemotherapeutic agents...

INTRODUCTION: Heart failure with preserved ejection fraction (HFPEF) is a common syndrome, accounting for about 50% of all patients with heart failure (HF). Morbidity and mortality are similar to patients with HF with reduced ejection fraction (HFREF), yet no effective treatment has been identified in randomized clinical trials. AREAS COVERED: This article provides an overview of the available literature regarding diagnosing established HFPEF and potential new therapeutic targets for the early diagnosis of HFPEF...

INTRODUCTION: When using adequate wavelength illumination and high resolution recordings, Caucasian skin color appears uneven. The patterns of faint mosaic melanoderma (FMM) are diverse and possibly related to the risk of skin cancer development. AREAS COVERED: The current peer-reviewed publications about objective methods quantifying FMM are revisited. The images from the Visioscan® and Visioface® Quick devices are computerized in order to record the ultraviolet light-enhanced visualization (ULEV) and the color-enhanced visualization (CEV) of the skin...

Before the 1980s, prostate cancer (PC) was considered a deadly disease. The mortality-incidence ratio showed that 1 out of each 2 - 3 PC patients died of this disease. On the other hand, autopsy studies have shown that latent PC is common in middle-aged men. The prostate-specific antigen (PSA), a glycoprotein produced by the epithelial cells of the prostate gland, received FDA's approval in 1986 for monitoring treatment response, and in 1994 as a screening aid for the diagnosis of PC. After the publication of two randomized trials on PC screening using the PSA test, it is generally accepted that systematic PSA-based screening, as compared to a clinical situation with virtually no screening, can reduce suffering from metastatic disease and PC mortality...

Biomarker research of psychiatric disorders is delayed by symptom pattern-related diagnostic categories that are only distantly associated with biological mechanisms. In neuropsychiatric disorders that have high heritability (schizophrenia, autism, Alzheimer's disease), genomic research led to significant genome-wide association study (GWAS) results by increasing the number of subjects in case-control studies, and thus provided new hypotheses regarding the aetiology of these disorders and possible targets for research of new treatment approaches...