41 research outputs found

    Improving hypertension control and patient engagement using digital tools

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    Hypertension is present in 30% of the adult US population and is a major contributor to cardiovascular disease. The established office-based approach yields only 50% blood pressure control rates and low levels of patient engagement. Available home technology now provides accurate, reliable data that can be transmitted directly to the electronic medical record. We evaluated blood pressure control in 156 patients with uncontrolled hypertension enrolled into a home-based digital-medicine blood pressure program and compared them with 400 patients (matched to age, sex, body mass index, and blood pressure) in a usual-care group after 90 days. Digital-medicine patients completed questionnaires online, were asked to submit at least one blood pressure reading/week, and received medication management and lifestyle recommendations via a clinical pharmacist and a health coach. Blood pressure units were commercially available that transmitted data directly to the electronic medical record. Digital-medicine patients averaged 4.2 blood pressure readings per week. At 90 days, 71% of digital-medicine vs 31% of usual-care patients had achieved target blood pressure control. Mean decrease in systolic/diastolic blood pressure was 14/5 mm Hg in digital medicine, vs 4/2 mm Hg in usual care (

    DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

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    During genome replication, polymerase epsilon (Pol Δ) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol Δ catalytic subunit POLE1, in 15 individuals from 12 families. Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IUGR], metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary anomalies in males), a disorder previously associated with gain-of-function mutations in CDKN1C. POLE1-deficient individuals also exhibited distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency. All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. The intronic variant alters splicing, and together the biallelic mutations lead to cellular deficiency of Pol Δ and delayed S-phase progression. In summary, we establish POLE as a second gene in which mutations cause IMAGe syndrome. These findings add to a growing list of disorders due to mutations in DNA replication genes that manifest growth restriction alongside adrenal dysfunction and/or immunodeficiency, consolidating these as replisome phenotypes and highlighting a need for future studies to understand the tissue-specific development roles of the encoded proteins

    What Is Ischemia and How Should This Be Defined Based on Modern Imaging?

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    How do we define myocardial ischemia? This is an important question for clinicians and one that, while conceptually straight forward, can be practically difficult to assess. In this article we describe the various imaging methods available in cardiology to quantify myocardial ischemia. Anatomic assessments of ischemia such as angiography, while the “gold standard”, have limitations. While some of these limitations can be mitigated with invasively measurements of fractional flow reserve or intravascular ultrasound, these tools have their own weaknesses. Non-invasive metabolic assessment, such as measuring glucose and fatty acid metabolism, are reliable in identifying ischemic, hibernating, or stunned myocardium but can be difficult to use clinically. Non-invasive physiologic assessment with myocardial perfusion agents with single photon emission tomography imaging and positron emission tomography (PET) with measurement of absolute myocardial flow additionally have their own strengths and weaknesses. In this article we review the data behind the various cardiac modalities used in defining myocardial assessments along with their strengths, practical use, and limitations. We conclude by discussing an integrative approach of relative uptake and absolute myocardial flow using cardiac PET imaging that allows for a more accurate assessment of ischemia along with cases demonstrating various scenarios available in cardiac PET imaging

    Hypertension management in the digital era

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    Purpose of review Hypertension (HTN) is the most common chronic disease in the United States, and the standard model of office-based care delivery continues to yield suboptimal outcomes, with approximately 50% of affected patients not achieving blood pressure (BP) control. Poor population-level BP control has been primarily attributed to therapeutic inertia and low patient engagement resulting in significant and preventable morbidity and mortality. This review will highlight the rationale for a reengineered model of care delivery for populations with HTN. Recent findings New technologies now enable patients to generate accurate home-based BP readings that are transmitted directly into the electronic medical record. Using more frequent BP measurements in conjunction with assessment of social health determinants, computerized algorithms can be generated that provide tailored interventions and communications that can transform HTN control. Summary New capabilities enable healthcare providers the means to measure larger volumes of BP data directly from home and provide near real-time interventions that can dramatically improve HTN control

    The role of technology in chronic disease care

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    Chronic disease represents the epidemic of our time, present in half the adult population and responsible for 86% of United States (US) healthcare costs and 70% of deaths. The major chronic diseases are primarily due to health risk behaviors that are widely communicable across populations. As a nation, the US has performed poorly in managing chronic disease, in large part because of a failed delivery model of care. New opportunities exist as a result of recent advances in home-based wireless devices, apps and wearables, enabling health delivery systems to monitor disease metrics in near real time. These technologies provide a framework for patient engagement and a new model of care delivery utilizing integrated practice units, both of which are needed to navigate the healthcare needs of the 21st century

    Assessment of resting myocardial blood flow in regions of known transmural scar to confirm accuracy and precision of 3D cardiac positron emission tomography

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    Abstract Background Composite invasive and non-invasive data consistently demonstrate that resting myocardial blood flow (rMBF) in regions of known transmural myocardial scar (TMS) converge on a value of ~ 0.30 mL/min/g or lower. This value has been confirmed using the 3 most common myocardial perfusion agents (13N, 15O-H2O and 82Rb) incorporating various kinetic models on older 2D positron emission tomography (PET) systems. Thus, rMBF in regions of TMS can serve as a reference “truth” to evaluate low-end accuracy of various PET systems and software packages (SWPs). Using 82Rb on a contemporary 3D-PET-CT system, we sought to determine whether currently available SWP can accurately and precisely measure rMBF in regions of known TMS. Results Median rMBF (in mL/min/g) and COV in regions of TMS were 0.71 [IQR 0.52–1.02] and 0.16 with 4DM; 0.41 [0.34–0.54] and 0.10 with 4DM-FVD; 0.66 [0.51–0.85] and 0.11 with Cedars; 0.51 [0.43–0.61] and 0.08 with Emory-Votaw; 0.37 [0.30–0.42], 0.07 with Emory-Ottawa, and 0.26 [0.23–0.32], COV 0.07 with HeartSee. Conclusions SWPs varied widely in low end accuracy based on measurement of rMBF in regions of known TMS. 3D PET using 82Rb and HeartSee software accurately (0.26 mL/min/g, consistent with established values) and precisely (COV = 0.07) quantified rMBF in regions of TMS. The Emory-Ottawa software yielded the next-best accuracy (0.37 mL/min/g), though rMBF was higher than established gold-standard values in ~ 5% of the resting scans. 4DM, 4DM-FDV, Cedars and Emory-Votaw SWP consistently resulted values higher than the established gold standard (0.71, 0.41, 0.66, 0.51 mL/min/g, respectively), with higher interscan variability (0.16, 0.11, 0.11, and 0.09, respectively). Trial registration: clinicaltrial.gov, NCT05286593, Registered December 28, 2021, https://clinicaltrials.gov/ct2/show/NCT05286593

    Reducing hospital toxicity: impact on patient outcomes

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    BACKGROUND: Circadian rhythms are endogenous 24-hour oscillations in biologic processes that drive nearly all physiologic and behavioral functions. Disruption in circadian rhythms can adversely impact short- and long-term health outcomes. Routine hospital care often causes significant disruption in sleep-wake patterns that is further compounded by loss of personal control of health information and health decisions. We wished to evaluate measures directed at improving circadian rhythm and access to daily health information on hospital outcomes.METHODS: We evaluated 3425 consecutive patients admitted to a medical-surgical unit comprised of an intervention wing (n = 1185) or standard control wing (n = 2240) over a 2.5-year period. Intervention patients received measures to improve sleep that included reduction of nighttime noise, delay of routine morning phlebotomy, passive vital sign monitoring, and use of red-enriched lighting after sunset, as well as access to daily health information utilizing an inpatient portal.RESULTS: Intervention patients accessed the inpatient portal frequently during hospitalization seeking personal health and care team information. Measures impacting the quality and quantity of sleep were significantly improved. Length of stay was 8.6 hours less (P = .04), 30- and 90-day readmission rates were 16% and 12% lower, respectively (both
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