Cape Cod Healthcare

PURPOSEScreening and prevention decisions for women at increased risk of developing breast cancer depend on genetic and clinical factors to estimate risk and select appropriate interventions. Integration of polygenic risk into clinical breast cancer risk estimators can improve discrimination. However, correlated genetic effects must be incorporated carefully to avoid overestimation of risk.MATERIALS AND METHODSA novel Fixed-Stratified method was developed that accounts for confounding when adding a new factor to an established risk model. A combined risk score (CRS) of an 86–single-nucleotide polymorphism polygenic risk score and the Tyrer-Cuzick v7.02 clinical risk estimator was generated with attenuation for confounding by family history. Calibration and discriminatory accuracy of the CRS were evaluated in two independent validation cohorts of women of European ancestry (N = 1,615 and N = 518). Discrimination for remaining lifetime risk was examined by age-adjusted logistic regression. Risk stratification with a 20% risk threshold was compared between CRS and Tyrer-Cuzick in an independent clinical cohort (N = 32,576).RESULTSSimulation studies confirmed that the Fixed-Stratified method produced accurate risk estimation across patients with different family history. In both validation studies, CRS and Tyrer-Cuzick were significantly associated with breast cancer. In an analysis with both CRS and Tyrer-Cuzick as predictors of breast cancer, CRS added significant discrimination independent of that captured by Tyrer-Cuzick (P < 10−11 in validation 1; P < 10−7 in validation 2). In an independent cohort, 18% of women shifted breast cancer risk categories from their Tyrer-Cuzick–based risk compared with risk estimates by CRS.CONCLUSIONIntegrating clinical and polygenic factors into a risk model offers more effective risk stratification and supports a personalized genomic approach to breast cancer screening and prevention.

ABSTRACTThis study examined if accelerometer-based assessments of physical activity were responsive to changes in physical activity level commensurate with performing structured versus unstructured activity in youth. Youth (6–16 years; N = 206) participated in a simulated after-school program that included structured and unstructured games on four occasions over a 3-year period. Recruitment occurred in 2007/2008 and data collection ended in 2011. Participants wore an Actigraph GT1M accelerometer on the hip. The Evenson cut-points were used to determine the time spent in each physical activity intensity, and standardized response means (SRM) were calculated and converted to standard effect sizes to be interpreted according to Cohen’s guidelines. SRMs ranged from trivial (0.16) to high (2.07), with the majority (75%) being classified as moderate or high. Our findings suggest that accelerometry was sensitive to differences in physical activity associated with structured compared to unstructured play, supporting the utility of accelerometry in evaluating activity-promoting interventions.

Carolyn Russett, MS, RN, BC, ONC, is Manager, Community and Patient Education, Cape Cod Healthcare, Hyannis, MA.

Medicare recently announced the adoption of minimum documentation criteria for the neurologic examination. These criteria are added to existing standards for the history and medical decision-making. These criteria will be used in compliance audits by Medicare and other payors. Given the current federal initiative to eliminate fraud in the Medicare program, all neurologists need to comply with these standards. These criteria are for documentation only. Neurologic standards of care require a more complex and diverse examination pertinent to the problem(s) under consideration. Further guidance as to the content of a neurologic evaluation is outlined in the article "Practice guidelines: Neurologic evaluation" (Neurology 1990; 40: 871). The level of history and examination required for specific services is defined in the American Medical Association current procedural terminology book. Documentation standards for examination of children are not yet defined.

Allergic rhinosinusitis has three forms of therapy: pharmacotherapy, immunotherapy, and surgical therapy. Pharmacotherapeutically, there are six classes of drugs that give symptomatic relief: mucolytics, decongestants, anti-cholinergic agents, antihistamines, mast cell stabilizers, and corticosteroids. All six classes are discussed individually and in detail. For immunotherapeutic therapy of allergic rhinosinusitis, there are four types of skin testing in current use: scratch testing, prick testing, single intradermal testing, and skin end point titration testing. Only the latter is able to quantitate the antigenicity of each antigen, and thus the treatment vial made from only this type of skin testing can adequately treat all antigens to which the patient is sensitive. These differences in testing and vial mixing are explained. The last form of therapy is surgical therapy, which corrects the obstructive phenomenon caused by allergic rhinosinusitis. The procedures described are reduction inferior turbinectomies and endoscopic sinus surgery. It is felt by the authors that the specialist who is uniquely positioned to offer a patient suffering from allergic rhinosinusitis all three forms of therapy is the rhinologist.