BACKGROUND Multiple studies suggest that hypertension-induced end-stage renal disease (ESRD) is heritable. Identification of nephropathy susceptibility genes absolutely requires accurate phenotyping, but the clinical hypertensive nephrosclerosis (HN) phenotype is poorly characterized. We hypothesized that many patients with HN as the indicated cause of ESRD on the Health Care Financing Administ...

The development of high-throughput sequencing technologies has led to remarkable progress in understanding the genetic basis of human epilepsies. Over the last 5 years, more than 20 genes have been identified through genome-first approaches, identifying novel genes first and then working backwards to understand the associated phenotypes. This approach has been useful in epileptic encephalopathi...

Each year the National Institute of Health spends over 12 billion dollars on patient related medical research. Accurately classifying patients into categories representing disease, exposures, or other medical conditions important to a study is critical when conducting patientrelated research. Without rigorous characterization of patients, also referred to as phenotyping, relationships between e...

Department of Respiratory Medicine, University Hospital of North Staffordshire, Stoke-on-Trent, UK Department of Respiratory Medicine, Glenfield Hospital, Leicester, UK North West Lung Centre, University Hospital of South Manchester, Wythenshawe Hospital, Manchester, UK Sheffield Thoracic Institute, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK Division of Therapeutics and Mo...

Atherogenesis is potentiated by metabolic abnormalities that contribute to a heightened state of systemic inflammation resulting in endothelial dysfunction. However, early functional changes in endothelium that signify an individual's level of risk are not directly assessed clinically to help guide therapeutic strategy. Moreover, the regulation of inflammation by local hemodynamics contributes ...

For more than a decade, researchers in the field of obesity have debated the value of the BMI as the most common and convenient index for classifying the obese condition. The implications of using BMI are profound. The cut-off points of BMI of <18.5 kg/m 2 , 18.5–24.9 kg/m 2 , 25.0–29.9 kg/m 2 , 30.0–34.9 kg/m 2 , 35.0–39.9 kg/m 2 and 40.0+ kg/m 2 define categories usually referred to as underw...

Despite ongoing efforts, neither effective treatments nor mechanistic understanding of the pathogenesis of human neuropathic pain exists. Genetic association studies may point to the novel molecules that mediate neuropathic pain, facilitating its understanding and management. Several studies used a candidate gene approach to elucidate genetic contribution to neuropathic pain phenotypes; however...

Traditional methods for trait phenotyping have been a bottleneck for research in many crop species due to their intensive labor, high cost, complex implementation, lack of reproducibility and propensity to subjective bias. Recently, multiple high-throughput phenotyping platforms have been developed, but most of them are expensive, species-dependent, complex to use, and available only for major ...

Our understanding of asthma has evolved over time from a singular disease to a complex of various phenotypes, with varied natural histories, physiologies, and responses to treatment. Early therapies treated most patients with asthma similarly, with bronchodilators and corticosteroids, but these therapies had varying degrees of success. Similarly, despite initial studies that identified an under...