Digital Twin-Enabled Personalized Nutrition Improves Metabolic Dysfunction-Associated Fatty Liver Disease in Type 2 Diabetes: Results of a 1-Year Randomized Controlled Study.

OBJECTIVE: Postprandial hyperglycemia drives insulin resistance and inflammation, leading to metabolic dysfunction-associated fatty liver disease (MAFLD). Prediction of postprandial glycemic responses by digital twin (DT) technology can fashion a personalized nutrition, activity, and sleep to treat type 2 diabetes (T2D) and MAFLD. This study examines the effects of DT-enabled personalized nutrition, activity, and sleep on glycemic status, surrogate markers of MAFLD, and magnetic resonance imaging-derived proton density fat fraction (MRI-PDFF) in patients with T2D. METHODS: In an open-label randomized trial (2:1), 319 people with T2D were eligible to intervention (DT) or standard care (SC). DT patients followed personalized meal plans with foods suggested by artificial intelligence with least predicted postprandial glycemic response. The primary end point was to compare change in hemoglobin A1c (HbA1c) and medicine reduction between the DT and SC groups. Key secondary end points included remission to compare liver function test scores and visceral adiposity using MRI. RESULTS: HbA1C was significantly better for DT than for SC (-2.9 [1.8] vs -0.3 [1.2]; P < .001) at 1 year with 72.7% remission of T2D. In patients with abnormal baseline values, significant improvements were seen in DT vs SC patients from baseline to 1 year in nonalcoholic fatty liver disease liver fat score (mean [SD]; -2.5 [2.0] vs -0.1 [1.5]; P < .001) and nonalcoholic fatty liver disease fibrosis score (-1.20 [0.9] vs -0.1 [1.0]; P < .001), respectively. Improvements are seen with DT compared with SC in other liver fat, fibrosis score, and %liver fat by MRI-PDFF. CONCLUSION: At 1 year, DT-enabled personalized treatment significantly improved hyperglycemia and surrogate markers of MAFLD and MRI-PDFF.

Challenges and opportunities faced by nurse scientists in integrating data and technology in research to promote health equity.

Advances in technologies including omics, apps, imaging, sensors, and big data are increasingly being integrated into research by nurse scientists, but the impact on improving health equity is still unclear. In this article, nursing research faculty from one institution discuss challenges and opportunities experienced when integrating various technologies into their research aimed at promoting health equity. Using exemplars from faculty experiences, a three-pronged approach to keeping patients and communities and the goal of health equity central in research while incorporating advancing technologies is described. This approach includes establishing long-term engagement with populations underrepresented in research, adopting strategies to increase diversity in study participant recruitment, and training and collaboration among a diverse workforce of educators, clinicians, and researchers. Training nurse scientists in integrating data and technology for advancing the science on health equity will shift the culture of how we understand, collaborate, and grow with the communities in which we train and practice as nurse scientists.

All things considered, my risk for diabetes is medium: A risk personalization process of familial risk for type 2 diabetes.

BACKGROUND: A positive family history of type 2 diabetes (T2D) has been associated with risk awareness and risk-reducing behaviours among the unaffected relatives. Yet, little is known about how people with a positive family history for diabetes develop and manage their personal sense of risk. OBJECTIVE: To characterize two key concepts, salience and vulnerability, within the familial risk perception (FRP) model among unaffected individuals, at increased familial risk for T2D. DESIGN: We conducted a mixed method study. Descriptions of salience and vulnerability were collected through semi-structured interviews. Participant's perception of self-reported risk factors (family history, age, race/ethnicity, medical history, weight and exercise) was measured using the Perceived Risk Factors for T2D Tool and was compared to a clinical evaluation of the same risk factors. RESULTS: We identified two components of salience: (a) concern for developing T2D and (b) risk awareness triggers, and two features of vulnerability: (a) statement of risk and (b) risk assessment devices. Although few participants (26%) were concordant between their perceived and clinical overall T2D risk, concordance for individual risk factors was higher, ranging from 42% (medical history) to 90% (family history). DISCUSSION AND CONCLUSION: Both familial and non-familial events lead people to contemplate their T2D risk, even among people who have a positive family history. Participants often downplayed their overall risk and underestimated their overall risk compared to a clinical risk assessment of the same self-reported risk factors. Clinicians could leverage key components of the FRP process as way to engage patients in risk reduction strategies earlier.

Type 2 diabetes familial risk personalization process profiles: Implications for patient-provider communication.

People who have a single first-degree relative with type 2 diabetes (T2D) are at increased risk for developing T2D over their lifetime. A positive family history of T2D is also associated with developing risk awareness and engaging in risk-reducing behaviors among the unaffected relatives. Yet, little is known about how people with a positive family history for disease personalize and process their familial risk to form perceptions about their own risk. In this mixed method study, we explored risk personalization among a diverse group of people between the ages of 18 and 60, with a positive family history of T2D, who were themselves unaffected (n = 109). We collected interview and survey data with respect to the familial risk perception personalization model. Using cluster analysis, qualitative and quantitative data were combined to inductively derive three distinct clusters representing three different familial risk perception personalization processes. These results can serve as a basis for tailored interventions aimed at reducing risk for T2D among people with increased risk due to familial history.

Social Network Factors and Anxiety Among Adolescents With Type 1 Diabetes and Their Parents.

Stressors generated by chronic illnesses in adolescents are experienced in the broader social context of their lives. The purpose of this study was to examine the social networks of 15 adolescents with type 1 diabetes and 25 parents and evaluate associations of social support and kinship type with state and trait anxiety. Social network data were collected through individual interviews. Participants completed self-reported measures of anxiety. Adolescents with lower anxiety had greater overlap with their parents' networks and more network members with whom they would not share their feelings. Parents with increased anxiety had more network members who provide support for everyday stressors, or with whom they lose their temper. The type of support provided by biological and social kin differed for adolescents versus parents. Tailored interventions leveraging existing social networks could be a key mechanism for supporting family responses to stress-provoking situations in the context of childhood chronic illness.

Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review.

Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives. However, family communication is not well understood and is ripe for developing interventions to improve screening rates. Until very recently, family communication of genetic risk has been mostly studied in non-cardiac disease. Using this non-cardiac literature, we developed the family communication of genetic risk (FCGR) conceptual framework. The FCGR has four main elements of the communication process: influential factors, communication strategies, communication occurrence, and reaction to communication. Using the FCGR, we conducted an integrated review of the available literature on genetic risk communication in HCA families. Descriptive analysis of 12 articles resulted in the development of categories describing details of the FCGR elements in the context of HCA. This review synthesizes what is known about influential factors, communication strategies, communication occurrence, and outcomes of communication in the context of HCA.

Mental Models of Cause and Inheritance for Type 2 Diabetes Among Unaffected Individuals Who Have a Positive Family History.

Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.

Light-Activated Staudinger-Bertozzi Ligation within Living Animals.

The ability to regulate small molecule chemistry in vivo will enable new avenues of exploration in imaging and pharmacology. However, realization of these goals will require reactions with high specificity and precise control. Here we demonstrate photocontrol over the highly specific Staudinger-Bertozzi ligation in vitro and in vivo. Our simple approach, photocaging the key phosphine atom, allows for the facile production of reagents with photochemistry that can be engineered for specific applications. The resulting compounds, which are both stable and efficiently activated, enable the spatial labeling of metabolically introduced azides in vitro and on live zebrafish.

SELECTIVE HYPOALDOSTERONISM: A REVIEW.

OBJECTIVE: Selective hypoaldosteronism (SH) is a condition manifested by hyperkalemia due to low aldosterone secretion with normal cortisol. One of the obstacles in diagnosis is the awareness of the condition itself. The objective of this review is to highlight what is known about the epidemiology, pathophysiology, etiology, presentation, diagnosis, and treatment of SH. METHODS: Literature search was performed on PubMed and Ovid Medline for articles which contained hypoaldosteronism as a major topic. RESULTS: The recent literature on this topic is surprisingly limited. Few recent review articles were found, none of which were in English and less than 5 years old. Case reports and genetic literature were also included in this review, as they contain the most recent reports of SH in the literature. CONCLUSION: Awareness about SH will hopefully help physicians to identify patients at risk as well as decide on treatment if any therapy is required.

Biochemical and radiological relationships in patients with pheochromocytoma: lessons from a case control study.

BACKGROUND: An elevation of fractionated plasma or urinary metanephrine (MN) or nor-metanephrine (NMN), collectively called metanephrines (MN and NMN), >4-fold above the upper limit of normal (ULN) is usually considered to be diagnostic for pheochromocytoma (PHEO). There are a greater number of false positive results when the elevations are more modest. AIM: To identify biochemical and radiological features in PHEOs with modest elevations (<4-fold above ULN) of metanephrines. METHODOLOGY: We retrospectively reviewed the charts of 112 patients with PHEO (10% extra-adrenal) and 208 patients with a non-PHEO adrenal mass operated from 1997-2011, who had metanephrines measured pre-operatively. We divided PHEO into group 1 (n = 90) with metanephrines ≥4-fold ULN and group 2 (n = 22) with metanephrines <4-fold ULN. The non-PHEO group was designated as group 3. RESULTS: The median (range) tumour size in group 1 and group 2 was 4·8 cm (1·7-22) and 3·0 cm (1·7-5) respectively (P < 0·001). All patients with PHEO in group 2 had a tumour <5 cm in size. The MN fraction was elevated in about 65% of groups 1 and 2; only 2 (1%) patients in group 3 had an elevated urinary MN fraction, and none were associated with an elevated plasma MN fraction. All PHEOs had a pre-contrast attenuation ≥17 Hounsfield Units (HU). CONCLUSIONS: Modest elevations (<4-fold ULN) of the NMN fraction in an adrenal mass >5 cm are almost always falsely positive. Elevations in plasma and urinary MN fraction are less likely to be false positive. The CT pre-contrast attenuation of PHEOs is >10 HU.

Cimetidine-associated patent ductus arteriosus is mediated via a cytochrome P450 mechanism independent of H2 receptor antagonism.

Persistent patency of the ductus arteriosus (PDA) is a common problem in preterm infants. The antacid cimetidine is a potent antagonist of the H2 histamine receptor but it also inhibits certain cytochrome P450 enzymes (CYPs), which may affect DA patency. We examined whether cimetidine contributes to PDA and is mediated by CYP inhibition rather than H2 blockade. Analysis of a clinical trial to prevent lung injury in premature infants revealed a significant association between cimetidine treatment and PDA. Cimetidine and ranitidine, both CYP inhibitors as well as H2 blockers, caused relaxation of the term and preterm mouse DA. CYP enzymes that are inhibited by cimetidine were expressed in DA subendothelial smooth muscle. The selective CYP3A inhibitor ketoconazole induced greater DA relaxation than cimetidine, whereas famotidine and other H2 antagonists with less CYP inhibitory effects caused less dilation. Histamine receptors were developmentally regulated and localized in DA smooth muscle. However, cimetidine caused DA relaxation in histamine-deficient mice, consistent with CYP inhibition, not H2 antagonism, as the mechanism for PDA. Oxygen-induced DA constriction was inhibited by both cimetidine and famotidine. These studies show that antacids and other compounds with CYP inhibitory properties pose a significant and previously unrecognized risk for PDA in critically ill newborn infants.

A closer look at the recommended criteria for disclosing genetic results: perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs.

Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs. We conducted telephone interviews with medical genetic specialists (genetic counselors, genetic nurses, medical geneticists, laboratory professionals), genomic researchers, and IRB chairs (N = 103). Respondents rated and discussed the importance of nine recommended criteria regarding disclosure of genetic/genomic IFs. Stakeholders agreed the most important criteria for disclosure were: (1) the IF points to a life-threatening condition; (2) there is a treatment; (3) individuals indicate in writing they wanted to be informed of IFs. Criteria rated less important were: analytic validity, high penetrance, association with a young age of onset and relative risk more than 2.0. Respondents indicated that some technical criteria were confusing, and in need of context. Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders' perspectives and be based on a common language.

Nurses' attitudes, abilities and educational preference related to using family pedigrees in clinical practice.

There is growing worldwide interest in using family pedigrees to assess health risks for diseases and implementing potential preventive interventions for health promotion. Nurses have been identified as key professionals in the process of collecting family history information and constructing pedigrees, and there is a gap in the literature related to these activities. The purpose of this study was to determine nurses' knowledge about, attitudes towards, perceived ability to use, and educational preference related to inclusion of family pedigrees in clinical practice. The study utilized a survey method with 174 nurses and correlational descriptive design. Results showed 74% of the nurses were interested in learning about family pedigrees and 64% responded positively to including them in clinical practice with the belief by 88% that they are helpful for preventive health care. Findings may be used to advance education and utilization of family pedigrees for nurses in clinical practice.

A Human-Centered Physician Journey.

The COVID-19 pandemic has placed unprecedented strain on global health systems, and the ability to safely and effectively deliver care. Further, it has impacted the mental health of global populations, in particular healthcare providers (i.e., physicians, nurses). In a service delivery context, much can be learned about empathy both from a provider and patient lens. Thus, the literature was explored to see if the concept of journey mapping was used to illustrate the intersections and pain points of the clinical workflow along the physician journey.

Teaching the use of respiratory inhalers to hospitalized patients with asthma or COPD: a randomized trial.

BACKGROUND: Hospitalized patients frequently misuse their respiratory inhalers, yet it is unclear what the most effective hospital-based educational intervention is for this population. OBJECTIVE: To compare two strategies for teaching inhaler use to hospitalized patients with asthma or chronic obstructive pulmonary disease (COPD). DESIGN: A Phase-II randomized controlled clinical trial enrolled hospitalized adults with physician diagnosed asthma or COPD. PARTICIPANTS: Hospitalized adults (age 18 years or older) with asthma or COPD. INTERVENTIONS: Participants were randomized to brief intervention [BI]: single-set of verbal and written step-by-step instructions, or, teach-to-goal [TTG]: BI plus repeated demonstrations of inhaler use and participant comprehension assessments (teach-back). MAIN MEASURES: The primary outcome was metered-dose inhaler (MDI) misuse post-intervention (<75% steps correct). Secondary outcomes included Diskus® misuse, self-reported inhaler technique confidence and prevalence of 30-day health-related events. KEY RESULTS: Of 80 eligible participants, fifty (63%) were enrolled (BI n=26, TTG n=24). While the majority of participants reported being confident with their inhaler technique (MDI 70%, Diskus® 94%), most misused their inhalers pre-intervention (MDI 62%, Diskus® 78%). Post-intervention MDI misuse was significantly lower after TTG vs. BI (12.5 vs. 46%, p=0.01). The results for Diskus® were similar and approached significance (25 vs. 80%, p=0.05). Participants with 30-day acute health-related events were less common in the group receiving TTG vs. BI (1 vs. 8, p=0.02). CONCLUSIONS: TTG appears to be more effective compared with BI. Patients over-estimate their inhaler technique, emphasizing the need for hospital-based interventions to correct inhaler misuse. Although TTG was associated with fewer post-hospitalization health-related events, larger, multi-centered studies are needed to evaluate the durability and clinical outcomes associated with this hospital-based education.

Nurses' perceived benefits, barriers, and educational recommendations for using family pedigrees in clinical practice.

BACKGROUND: There is growing emphasis on the use of genetics and genomics, including family pedigrees, in nursing education. This study explored nurses' perceptions of the benefits, barriers, and educational recommendations related to family pedigrees. METHODS: A qualitative design using focus group methods was used to gather data from a convenience sample of 28 nurses working at a large medical center in the Midwestern United States. RESULTS: Nurses believed that factors supporting the use of family pedigrees are clearly identified patient benefits, an electronic tool initiated in primary care, and use by multiple disciplines. Barriers include lack of ongoing support and possible ethical, legal, social, and cultural issues. Educational recommendations include clinically relevant patient and family decision making regarding care. CONCLUSION: These nurses had positive perceptions of the use of family pedigrees in clinical nursing practice. They identified a need for education and stressed the importance of specialty-specific case examples to maximize relevance.

From Probands to Relatives: Communication of Genetic Risk for Hereditary Breast-Ovarian Cancer and Its Influence on Subsequent Testing.

BACKGROUND: The genetic risk communication from proband to relatives varies from family to family, and patients often need support with the communication of genetic test results and making decisions to manage hereditary cancer risks. OBJECTIVE: The aim of this study was to characterize the communication of BRCA1 or BRCA2 (BRCA1/2) genetic risk from proband to first-degree relatives (FDRs) using a social network framework. METHODS: We characterized network and nonnetwork factors to explore their association with which FDRs were told about the genetic risk and whether or not relatives underwent genetic testing. Ninety-two female probands with hereditary breast and ovarian cancer who have confirmed BRCA1/2 mutations participated in the study. Communication of hereditary breast and ovarian cancer risk was assessed between 92 probands and their 417 FDRs. RESULTS: Of 92 probands, 94.5% (n = 87) communicated their genetic test result to at least one of their FDRs. Of FDRs older than 18 years, 19.9% (n = 72) have genetic testing. Emotional closeness, educational level of the proband, and relative's age were significantly associated with communicating test results with FDRs. CONCLUSION: Communication of genetic risk with the FDRs after having a BRCA1/2 gene-mutation-positive test result was high in this group of cancer patients. However, the rate of genetic testing among FDRs was low. IMPLICATIONS FOR PRACTICE: Probands' educational level and age of relatives for cascade genetic screening should be considered during counseling. Interventions to support women with BRCA1/2 mutations during the communication process and their family members' engagement in testing and risk-reducing strategies are needed.

A Longitudinal Study Identifying the Characteristics and Content Knowledge of Those Seeking Certification to Teach Secondary Biology in the United States.

Teacher content knowledge has been identified as a key prerequisite to effective instruction, and current educational policies require measurement of teacher content knowledge to assess candidacy for licensure. The primary instruments used in the United States are the Praxis Subject Assessment exams, which are designed to measure the subject-specific content knowledge needed to be a teacher. The Praxis Biology Subject Assessment exam, used by 42 U.S. states in the past decade, is the most common national measure used to determine biology content knowledge for teacher certification. Demographic and performance data from examinees (N = 43,798) who took the Praxis Biology Subject Assessment from 2006 to 2015 were compared to present a much-needed picture of who is seeking certification to teach biology, how different groups of aspiring biology teachers have performed, and how demographic makeup of prospective biology teachers compares with reports in previous studies describing the composition of the biology teacher workforce. Results indicate the majority of students self-reported as White (76%), female (66%), having undergraduate grade point averages (GPAs) at or above a 3.0 (76%) and majoring in biology (45%). Additionally, the demographic data were included in a linear regression model to determine the factors that explained the most variance in performance of the examinee. The model revealed substantial differences in average performance and pass rates between examinees of different genders, races, undergraduate majors, undergraduate GPAs, and census regions. This suggests that if the examinee is a White science, technology, engineering, and mathematics major, man with a 3.5 or higher undergraduate GPA, resides in the western United States, or plans to teach in a suburban school, the examinee will on average outperform their counterparts on the exam. From our analyses, we suggest several measures for the improvement of the biology teaching workforce and establish potential issues in the teacher pipeline that may impact the quality and diversity of U.S. biology teachers.

Misuse of respiratory inhalers in hospitalized patients with asthma or COPD.

BACKGROUND: Patients are asked to assume greater responsibility for care, including use of medications, during transitions from hospital to home. Unfortunately, medications dispensed via respiratory inhalers to patients with asthma or chronic obstructive pulmonary disease (COPD) can be difficult to use. OBJECTIVES: To examine rates of inhaler misuse and to determine if patients with asthma or COPD differed in their ability to learn how to use inhalers correctly. DESIGN: A cross-sectional and pre/post intervention study at two urban academic hospitals. PARTICIPANTS: Hospitalized patients with asthma or COPD. INTERVENTION: A subset of participants received instruction about the correct use of respiratory inhalers. MAIN MEASURES: Use of metered dose inhaler (MDI) and Diskus devices was assessed using checklists. Misuse and mastery of each device were defined as <75% and 100% of steps correct, respectively. Insufficient vision was defined as worse than 20/50 in both eyes. Less-than adequate health literacy was defined as a score of <23/36 on The Short Test of Functional Health Literacy in Adults (S-TOFHLA). KEY RESULTS: One-hundred participants were enrolled (COPD n = 40; asthma n = 60). Overall, misuse was common (86% MDI, 71% Diskus), and rates of inhaler misuse for participants with COPD versus asthma were similar. Participants with COPD versus asthma were twice as likely to have insufficient vision (43% vs. 20%, p = 0.02) and three-times as likely to have less-than- adequate health literacy (61% vs. 19%, p = 0.001). Participants with insufficient vision were more likely to misuse Diskus devices (95% vs. 61%, p = 0.004). All participants (100%) were able to achieve mastery for both MDI and Diskus devices. CONCLUSIONS: Inhaler misuse is common, but correctable in hospitalized patients with COPD or asthma. Hospitals should implement a program to assess and teach appropriate inhaler technique that can overcome barriers to patient self-management, including insufficient vision, during transitions from hospital to home.

Experiences of BRCA1/2 Gene Mutation-Positive Women With Cancer in Communicating Genetic Risk to Their Relatives.

BACKGROUND: When a woman is diagnosed with hereditary breast or ovarian cancer, family members may be at high risk of cancers associated with BRCA1/2 gene mutation and benefit from disclosure of the genetic test result. This duty of informing relatives may be distressing, or relatives may not be properly informed. OBJECTIVE: To qualitatively describe breast cancer patients' experiences communicating genetic risk of cancer to their relatives. METHODS: Probands with BRCA1/2 gene mutations were recruited from an oncology institute in Istanbul, Turkey, and interviewed by telephone. Qualitative content analysis was conducted to derive central elements of the 30 women's experiences communicating genetic risk to their relatives. RESULTS: Six themes were identified: response to genetic test results, reason for communication, feelings about communication, reflection after communication, results of communication, and needs. CONCLUSION: Women with cancer found to have BRCA1/2 gene mutations tended to share their genetic test results within the family. The main motives for sharing test results were the desire to encourage relatives to get tested and moral and ethical convictions. Women needed explicit information regarding cancer risk and risk-reducing strategies to act upon. IMPLICATIONS FOR PRACTICE: The women's feelings and reflections about the communication process were varied and suggest that personalized genetic risk communication interventions may better support women with BRCA1/2 gene mutations during and after communication with relatives. Long-term follow-up of those women is essential because of the need for informed decision on risk-reducing strategies.