Cardiovascular health assessment in routine cancer follow-up in community settings: survivor risk awareness and perspectives.

BACKGROUND: Guidelines recommend cardiovascular risk assessment and counseling for cancer survivors. For effective implementation, it is critical to understand survivor cardiovascular health (CVH) profiles and perspectives in community settings. We aimed to (1) Assess survivor CVH profiles, (2) compare self-reported and EHR-based categorization of CVH factors, and (3) describe perceptions regarding addressing CVH during oncology encounters. METHODS: This cross-sectional analysis utilized data from an ongoing NCI Community Oncology Research Program trial of an EHR heart health tool for cancer survivors (WF-1804CD). Survivors presenting for routine care after potentially curative treatment recruited from 8 oncology practices completed a pre-visit survey, including American Heart Association Simple 7 CVH factors (classified as ideal, intermediate, or poor). Medical record abstraction ascertained CVD risk factors and cancer characteristics. Likert-type questions assessed desired discussion during oncology care. RESULTS: Of 502 enrolled survivors (95.6% female; mean time since diagnosis = 4.2 years), most had breast cancer (79.7%). Many survivors had common cardiovascular comorbidities, including high cholesterol (48.3%), hypertension or high BP (47.8%) obesity (33.1%), and diabetes (20.5%); 30.5% of survivors received high cardiotoxicity potential cancer treatment. Less than half had ideal/non-missing levels for physical activity (48.0%), BMI (18.9%), cholesterol (17.9%), blood pressure (14.1%), healthy diet (11.0%), and glucose/ HbA1c (6.0%). While > 50% of survivors had concordant EHR-self-report categorization for smoking, BMI, and blood pressure; cholesterol, glucose, and A1C were unknown by survivors and/or missing in the EHR for most. Most survivors agreed oncology providers should talk about heart health (78.9%). CONCLUSIONS: Tools to promote CVH discussion can fill gaps in CVH knowledge and are likely to be well-received by survivors in community settings. TRIAL REGISTRATION: NCT03935282, Registered 10/01/2020.

ARF1-related disorder: phenotypic and molecular spectrum.

PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder. METHODS: We collected detailed phenotypes of an international cohort of individuals (n=17) with ARF1 variants assembled through the GeneMatcher platform. Missense variants were structurally modelled, and the impact of several were functionally validated. RESULTS: De novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) in ARF1 were identified among 17 unrelated individuals. Detailed phenotypes included intellectual disability (ID), microcephaly, seizures and PVNH. No specific facial characteristics were consistent across all cases, however microretrognathia was common. Various hearing and visual defects were recurrent, and interestingly, some inflammatory features were reported. MRI of the brain frequently showed abnormalities consistent with a neuronal migration disorder. CONCLUSION: We confirm the role of ARF1 in an autosomal dominant syndrome with a phenotypic spectrum including severe ID, microcephaly, seizures and PVNH due to impaired neuronal migration.

Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease.

Congenital heart disease (CHD) is a common structural anomaly, affecting ~ 1% of live births worldwide. Advancements in medical and surgical management have significantly improved survival for children with CHD, however, extracardiac malformations (ECM) continue to be a significant cause of morbidity and mortality. Despite clinical significance, there is limited literature available on ECM in neonates with CHD, especially from Latin America. A cross-sectional study of neonates with severe CHD evaluated by the medical-surgical board team at Fundación Cardiovascular de Colombia from 2014 to 2019 was completed to characterize morbidity, mortality, surgical outcomes, and ECM. Demographics and surgical outcomes were compared between neonates with and without ECM. Medical record data were abstracted and descriptive statistical analysis was performed. Of 378 neonates with CHD, 262 had isolated CHD (69.3%) and 116 had ECM (30.7%). The most common ECM was gastrointestinal (n = 18, 15.5%) followed by central nervous system (n = 14, 12%). Most neonates required a biventricular surgical approach (n = 220, 58.2%). Genetic testing was performed more often for neonates with ECM (n = 65, 56%) than neonates with isolated CHD (n = 14, 5.3%). Neonates with ECM had lower birth weight, longer hospital stays, and higher postsurgical complications rates. There was no difference in survival between groups. Overall, Screening for ECM in neonates with CHD is important and identification of ECM can guide clinical decision-making. These findings have important implications for pediatric healthcare providers, especially in low- and middle-income countries, where the burden of CHD is high and resources for managing CHD and extracardiac malformations may be limited.

An integrative view of the regulatory and transcriptional landscapes in mouse hematopoiesis.

Thousands of epigenomic data sets have been generated in the past decade, but it is difficult for researchers to effectively use all the data relevant to their projects. Systematic integrative analysis can help meet this need, and the VISION project was established for validated systematic integration of epigenomic data in hematopoiesis. Here, we systematically integrated extensive data recording epigenetic features and transcriptomes from many sources, including individual laboratories and consortia, to produce a comprehensive view of the regulatory landscape of differentiating hematopoietic cell types in mouse. By using IDEAS as our integrative and discriminative epigenome annotation system, we identified and assigned epigenetic states simultaneously along chromosomes and across cell types, precisely and comprehensively. Combining nuclease accessibility and epigenetic states produced a set of more than 200,000 candidate cis-regulatory elements (cCREs) that efficiently capture enhancers and promoters. The transitions in epigenetic states of these cCREs across cell types provided insights into mechanisms of regulation, including decreases in numbers of active cCREs during differentiation of most lineages, transitions from poised to active or inactive states, and shifts in nuclease accessibility of CTCF-bound elements. Regression modeling of epigenetic states at cCREs and gene expression produced a versatile resource to improve selection of cCREs potentially regulating target genes. These resources are available from our VISION website to aid research in genomics and hematopoiesis.

Endometrial cancer survivors' perceptions of their cardiovascular disease risk (results from WF-1804CD AH-HA).

OBJECTIVE: Despite considerable burden of cardiovascular disease (CVD), data on endometrial cancer survivors' CVD perceptions are lacking. We assessed survivors' perspectives on addressing CVD risk during oncology care. METHODS: This cross-sectional analysis utilized data from an ongoing trial of an EHR heart health tool (R01CA226078 & UG1CA189824) conducted through the NCI Community Oncology Research Program (NCORP, WF-1804CD). Endometrial cancer survivors post-potentially curative treatment were recruited from community practices and completed a pre-visit baseline survey, including American Heart Association Simple 7 CVD factors. Likert-type questions assessed confidence in understanding CVD risk, CVD risk perception, and desired discussion during oncology care. Medical record abstraction ascertained data on CVD and cancer characteristics. RESULTS: Survivors (N = 55, median age = 62; 62% 0-2 years post-diagnosis) were predominately white, non-Hispanic (87%). Most agreed/strongly agreed heart disease poses a risk to their health (87%) and oncology providers should talk to patients about heart health (76%). Few survivors reported smoking (12%) but many had poor/intermediate values for blood pressure (95%), body mass index (93%), fasting glucose/A1c (60%), diet (60%), exercise (47%) and total cholesterol (53%). 16% had not seen a PCP in the last year; these survivors were more likely to report financial hardship (22% vs 0%; p = 0.02). Most reported readiness to take steps to maintain or improve heart health (84%). CONCLUSIONS: Discussions of CVD risk during routine oncology care are likely to be well received by endometrial cancer survivors. Strategies are needed to implement CVD risk assessment guidelines and to enhance communication and referrals with primary care. Clinical Trials #: NCT03935282.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Mitogen-activated protein 3 kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor ß-activated kinase 1, which plays a crucial role in many cellular processes. Mutationsin the MAP3K7 gene have been linked to two distinct disorders: frontometaphyseal dysplasia type 2 (FMD2) and cardiospondylocarpofacial syndrome (CSCF). The fact that different mutations can induce two distinct phenotypes suggests a phenotype/genotype correlation, but no side-by-side comparison has been done thus far to confirm this. Here, we significantly expand the cohort and the description of clinical phenotypes for patients with CSCF and FMD2 who carry mutations in MAP3K7. Our findings support that in contrast to FMD2-causing mutations, CSCF-causing mutations in MAP3K7 have a loss-of-function effect. Additionally, patients with pathogenic mutations in MAP3K7 are at risk for (severe) cardiac disease, have symptoms associated with connective tissue disease, and we show overlap in clinical phenotypes of CSCF with Noonan syndrome (NS). Together, we confirm a molecular fingerprint of FMD2- versus CSCF-causing MAP3K7 mutations and conclude that mutations in MAP3K7 should be considered in the differential diagnosis of patients with syndromic congenital cardiac defects and/or cardiomyopathy, syndromic connective tissue disorders, and in the differential diagnosis of NS.

A comparison of survey incentive methods to recruit rural cancer survivors into cancer care delivery research studies.

Unconditional (upfront) incentives are proposed to improve acceptance of cancer research among underrepresented, racial/ethnic minority populations, but few studies have tested incentive strategies among rural cancer survivors. Descriptive statistics summarized demographic characteristics of survey respondents, and response rates by arm were compared using Chi-square tests. We compared upfront ($2) and response-based ($10 conditional) incentives in a mailed survey of adult post-treatment rural survivors. Individuals meeting eligibility criteria from the electronic medical record (n = 2,830) were randomized into two incentive arms (n = 1,414 for the upfront arm and n = 1,416 for the contingent arm). Of the total delivered, presumed eligible participants (n = 1,304 upfront arm; n = 1,317 contingent arm), 67.8% were aged 65y+, 49.8% were female, and 95.1% were non-Hispanic white. The response rate for all participants was 18.5%. We received eligible surveys from 281 rural survivors in the first arm (response rate: 21.5%); and 205 surveys in the second arm (response rate: 15.6%). Participants who received the upfront incentive had a higher response rate than those receiving a response-based incentive, X2 (1, 2,621) = 15.53, p < 0.0001. Incentivizing survey completion with an upfront $2 bill encouraged a higher survey response rate; other supplemental strategies are needed to achieve a higher response rate for this population.

A clinical scoring system for early onset (neonatal) Marfan syndrome.

PURPOSE: This study aimed to develop objective diagnostic criteria for early onset Marfan syndrome (eoMFS) to facilitate early diagnosis and timely interventions. METHODS: On the basis of an extensive literature review and the responses from a survey distributed among providers with expertise in the diagnosis and management of eoMFS, we developed an age-based, diagnostic scoring system encompassing 10 features common to eoMFS (9 clinical + 1 laboratory) and divided them into cardiac, systemic, and FBN1 (on the basis of the location of the pathogenic FBN1 variant) scores. RESULTS: In total, 77 individuals with eoMFS (13 newly reported) and 49 individuals diagnosed with classical Marfan syndrome during early childhood were used to validate the criteria. Median cardiac (8 vs 0, P < .001), systemic (11 vs 3, P < .001), FBN1 (5 vs 0, P < .001), and total (23 vs 4, P < .001) scores were significantly higher in individuals with eoMFS than in those without. A proposed clinical score (cardiac + systemic) cutoff of ≥14 points showed excellent sensitivity (100%), specificity (92%), and reliability (correctly classified = 94%). CONCLUSION: Distinct from classical Marfan syndrome in phenotype and morbidity, eoMFS can be diagnosed clinically using an objective scoring system encompassing the typical physical features and cardiac disease manifestations. Although genetic testing can be suggestive of eoMFS, genetic testing alone is insufficient for diagnosis.

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine phosphatase that regulates numerous biological processes. PPP2R1A encodes the scaffolding "Aα" subunit of PP2A. To date, nearly 40 patients have been previously reported with 19 different pathogenic PPP2R1A variants, with phenotypes including intellectual disability, developmental delay, epilepsy, infant agenesis/dysgenesis of the corpus callosum, and dysmorphic features. Apart from a single case, severe congenital heart defects (CHD) have not been described. We report four new unrelated individuals with pathogenic heterozygous PPP2R1A variants and CHD and model the crystal structure of several variants to investigate mechanisms of phenotype disparity. Individuals 1 and 2 have a previously described variant (c.548G>A, p.R183Q) and similar phenotypes with severe ventriculomegaly, agenesis/dysgenesis of the corpus callosum, and severe CHD. Individual 3 also has a recurrent variant (c.544C>T, p.R182W) and presented with agenesis of corpus callosum, ventriculomegaly, mild pulmonic stenosis, and small patent foramen ovale. Individual 4 has a novel variant (c.536C>A, p.P179H), ventriculomegaly, and atrial septal defect. To conclude, we propose expansion of the phenotype of PPP2R1A neurodevelopmental disorder to include CHD. Further, the R183Q variant has now been described in three individuals, all with severe neurologic abnormalities, severe CHD, and early death suggesting that this variant may be particularly deleterious.

Correlates of financial toxicity in adult cancer patients and their informal caregivers.

BACKGROUND: Financial toxicity is commonly reported by cancer patients, but few studies have assessed caregiver perceptions. We aimed to validate the modified Comprehensive Score for Financial Toxicity (COST) in cancer caregivers, identify factors associated with financial toxicity in both patients and caregivers, and assess the association of caregiver financial toxicity with patient and caregiver outcomes. METHODS: Using a convenience sampling method, 100 dyads of adult cancer patients and a primary caregiver visiting outpatient oncology clinics (Jan-Sep 2019) were recruited. We assessed the internal consistency and convergent and divergent validity of the modified COST. Multivariable analyses identified correlates of financial toxicity. Association of financial toxicity with care non-adherence, lifestyle-altering behaviors (e.g., home refinance/sale, retirement/saving account withdrawal), and quality of life (QOL) was investigated. RESULTS: Recruited patient vs. caregiver characteristics were as follows: mean age: 60.6 vs. 56.5; 34% vs. 46.4% female; 79% vs. 81.4% white. The caregiver COST measure demonstrated high internal consistency (Cronbach α = 0.91). In patients, older age (B, 0.3 [95% CI, 0.1-0.4]) and higher annual household income (B, 14.3 [95% CI, 9.3-19.4]) correlated with lower financial toxicity (P < 0.05). In caregivers, lower patient financial toxicity (B, 0.4 [95% CI, 0.2-0.6]) and cancer stages 1-3 (compared to stage 4) (B, 4.6 [95% CI, 0.4-8.8]) correlated with lower financial toxicity (P < 0.05). Increased caregiver financial toxicity correlated with higher care non-adherence in patients, increased lifestyle-altering behaviors, and lower QOL in patients and caregivers (P < 0.05). CONCLUSION: The COST measure can also be used to assess caregiver financial toxicity. Caregivers' financial toxicity was associated with negative outcomes for both dyad members.

Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study.

Bicuspid aortic valve (BAV) is the most common congenital heart defect, which can cause severe cardiac complications. BAVs cluster in families and demonstrate high heritability. Cardiac screening for first-degree relatives of individuals with a BAV is recommended. This retrospective two-group study evaluated the impact of cardiovascular genetic counseling provided by a board-certified genetic counselor on parent-reported outcomes by comparing parental responses of those who received genetic counseling by a genetic counselor (GC group) for family history of BAV to those who did not (non-GC group). A retrospective chart review from May 2016 to June 2019 identified 133 pediatric patients with an isolated BAV. Parents of eligible probands were invited to complete an online survey assessing genetics knowledge, empowerment (Genomics Outcome Scale), and familial uptake of cardiac screening. Surveys were completed by 38/97 (39%) parents in the non-GC group and 20/36 (56%) parents in the GC group. The median genetics knowledge score was not significantly different between the two groups (GC group: 8, range 3-11 out of a maximum possible of 12; non-GC group: 7, range 2-11; p = .08). The mean empowerment score was not significantly different between the two groups (GC group: mean 24.6, SD 2.2; non-GC group: mean 23.2, SD 3.5; p = .06). The uptake of cardiac screening was significantly higher in the GC group with 39/59 (66%) total first-degree relatives reported as having been screened compared with 36/91 (40%) in the non-GC group (p = .002). Parent-reported outcomes in our study suggest that receiving genetic counseling by a board-certified genetic counselor significantly increased familial uptake of cardiac screening for first-degree relatives of pediatric patients with a BAV. Studies with larger sample sizes are needed to confirm the findings of this study; however, a referral to a genetic counselor should be considered for patients with a BAV.

An Evaluation of Breast and Cervical Cancer Screening Outcomes in an Education and Patient Navigation Program in Rural and Border Texas.

This study examines breast and cervical cancer screening uptake in a cancer education and patient navigation (PN) program for residents of rural and border counties in Texas by level of participation (education only, PN only, or education and PN). Data collected from March 1, 2012, to November 5, 2016, included 6663 follow-up surveys from participants aged 21-74. Logistic regression models assessed program participation on the odds of completing breast or cervical cancer screening. For women aged 40-74 years (N = 4942; mean age = 52 years), 58.4% reported a mammogram within 6 months on average from initial contact. In the breast cancer screening model, women who only received PN (OR: 6.06, CI: 4.87-7.53) or who participated in both the education plus PN program (OR: 3.33, CI: 2.77-4.02) had higher odds of mammogram screening compared to women who only received education. For women aged 21-64 years (N = 6169; mean age = 46 years), 37.7% received a Papanicolaou (Pap) test within 6 months on average from initial contact. In the Pap screening model, both education and PN (OR: 3.23, CI: 2.66-3.91) and PN only (OR: 2.35, CI: 1.88-2.93) groups had higher odds of screening for cervical cancer compared to those only receiving education. Graphed predicted probabilities examined significant interactions between race/ethnicity/language and program participation (P < 0.0001) for both screenings. PN, solely or in combination with education, is an effective strategy to increase screening for breast and cervical cancer, beyond educational outreach efforts alone, among un-/underserved, racially/ethnically diverse women in rural and border Texas counties.

Caregiver engagement practices in National Cancer Institute Clinical Oncology Research Program settings: Implications for research to advance the field.

BACKGROUND: Supportive care interventions have demonstrated benefits for both informal and/or family cancer caregivers and their patients, but uptake generally is poor. To the authors' knowledge, little is known regarding the availability of supportive care services in community oncology practices, as well as engagement practices to connect caregivers with these services. METHODS: Questions from the National Cancer Institute Community Oncology Research Program (NCORP)'s 2017 Landscape Survey examined caregiver engagement practices (ie, caregiver identification, needs assessment, and supportive care service availability). Logistic regression was used to assess the relationship between the caregiver engagement outcomes and practice group characteristics. RESULTS: A total of 204 practice groups responded to each of the primary outcome questions. Only 40.2% of practice groups endorsed having a process with which to systematically identify and document caregivers, although approximately 76% were routinely using assessment tools to identify caregiver needs and approximately 63.7% had supportive care services available to caregivers. Caregiver identification was more common in sites affiliated with a critical access hospital (odds ratio [OR], 2.44; P = .013), and assessments were less common in safety-net practices (OR, 0.41; P = .013). Supportive care services were more commonly available in the Western region of the United States, in practices with inpatient services (OR, 2.96; P = .012), and in practices affiliated with a critical access hospital (OR, 3.31; P = .010). CONCLUSIONS: Although many practice groups provide supportive care services, fewer than one-half systematically identify and document informal cancer caregivers. Expanding fundamental engagement practices such as caregiver identification, assessment, and service provision will be critical to support recent calls to improve caregivers' well-being and skills to perform caregiving tasks.

Developing pathways, a hope-enhancing intervention for metastatic lung cancer patients receiving cancer treatment.

OBJECTIVE: Between 40% and 65% of lung cancer patients report concern about maintaining valued activities and roles, yet few interventions address this concern. Hope, a patient's perceived ability to generate goals and identify ways to pursue them, may be a promising intervention target to support function among lung cancer patients. The goal of this study was to assess metastatic non-small cell lung cancer (mNSCLC) patient interest and preferences for a hope-enhancing intervention. METHODS: We conducted a sequential mixed-methods (survey followed by semi-structured interviews) study with patients with mNSCLC. Surveys assessed patient interest in, perceived helpfulness of, and preferences for a hope intervention. A subset of 12 patients (and caregivers, when present) completed semi-structured interviews to elicit feedback on proposed intervention content and procedures. RESULTS: Survey data from 60 patients (40% male; Mean age = 62.5; SD = 9.3) suggested high perceived importance of pursuing personal goals during cancer treatment, moderate perceived helpfulness in discussing personal goals, and preference for a nurse-led intervention. Based on these data, a 5-session, nurse-led intervention protocol was drafted and reviewed with 12 patients. Interviewed patients and caregivers agreed working towards goals was beneficial, liked the intervention concept, and thought prompts and rating scales on handouts would facilitate discussion. The majority preferred nurse delivery during infusions. CONCLUSIONS: A nurse-led hope-enhancing intervention delivered primarily during infusions may be acceptable to mNSCLC patients. Future work should test feasibility and identify ways to incorporate caregivers and oncology providers into hope interventions.

Evaluating the Impact of Inadequate Meal Consumption on Insulin-Related Hypoglycemia in Hospitalized Patients.

OBJECTIVE: Meal intake is sometimes reduced in hospitalized patients. Meal-time insulin administration can cause hypoglycemia when a meal is not consumed. Inpatient providers may avoid ordering meal-time insulin due to hypoglycemia concerns, which can result in hyperglycemia. The frequency of reduced meal intake in hospitalized patients remains inadequately determined. This quality improvement project evaluates the percentage of meals consumed by hospitalized patients with insulin orders and the resulting risk of postmeal hypoglycemia (blood glucose [BG] <70 mg/dL, <3.9 mmol/L). METHODS: This was a retrospective quality improvement project evaluating patients with any subcutaneous insulin orders hospitalized at a regional academic medical center between 2015 and 2017. BG, laboratory values, point of care, insulin administration, diet orders, and percentage of meal consumed documented by registered nurses were abstracted from electronic health records. RESULTS: Meal consumption ≥50% was observed for 85% of meals with insulin orders, and bedside registered nurses were accurate at estimating this percentage. Age ≥65 years was a risk factor for reduced meal consumption (21% of meals 0%-49% consumed, P < .05 vs age < 65 years [12%]). Receiving meal-time insulin and then consuming only 0% to 49% of a meal (defined here as a mismatch) was not rare (6% of meals) and increased postmeal hypoglycemia risk. However, the attributable risk of postmeal hypoglycemia due to this mismatch was low (4 events per 1000) in patients with premeal BG between 70 and 180 mg/dL. CONCLUSION: This project demonstrates that hospitalized patients treated with subcutaneous insulin have a low attributable risk of postmeal hypoglycemia related to inadequate meal intake.

Evidence-based smoking cessation treatment: a comparison by healthcare system.

BACKGROUND: A systems-level approach to smoking cessation treatment may optimize healthcare provider adherence to guidelines. Institutions such as the Veterans Health Administration (VHA) are unique in their systematic approach, but comparisons of provider behavior in different healthcare systems are limited. METHODS: We surveyed general medicine providers and specialists in a large academic health center (AHC) and its affiliated VHA in the Mid-South in 2017 to determine the cross-sectional association of healthcare system in which the provider practiced (exposure: AHC versus VHA) with self-reported provision of evidence-based smoking cessation treatment (delivery of counseling plus smoking cessation medication or referral) at least once in the past 12 months (composite outcome). Multivariable logistic regression with adjustment for specialty was performed in 2017-2019. RESULTS: Of 625 healthcare providers surveyed, 407 (65%) responded, and 366 (59%) were analyzed. Most respondents practiced at the AHC (273[75%] vs VHA 93[25%]) and were general internists (215[59%]); pulmonologists (39[11%]); hematologists/oncologists (69[19%]); and gynecologists (43[12%]). Most respondents (328[90%]) reported the primary outcome. The adjusted odds of evidence-based smoking cessation treatment were higher among VHA vs. AHC healthcare providers (aOR = 4.3; 95% CI 1.3-14.4; p = .02). Health systems differed by provision of individual treatment components, including smoking cessation medication use (98% VHA vs. 90% AHC, p = 0.02) and referral to smoking cessation services (91% VHA vs. 65% AHC p = 0.001). CONCLUSIONS: VHA healthcare providers were significantly more likely to provide evidence-based smoking cessation treatment compared to AHC healthcare providers. Healthcare systems' prioritization of and investment in smoking cessation treatment is critical to improving providers' adherence to guidelines.

Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys-Dietz Syndrome.

Progressive aortic dilation is common in Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). Risk factors for progression are poorly understood. Normal variation in the aortic root (AoR) rotational position relative to the left ventricular base may impact this risk. We aimed to assess the relationship between the rotational position of the AoR and aortic dimensions in this population. Patients with a genetic diagnosis of MFS or LDS were included. AoR and ascending aorta (AAo) dimensions were measured from the first and most recent transthoracic echocardiogram. The AoR rotational angle was measured in the parasternal short-axis plane in diastole. Linear regression was used to study the correlation between AoR rotation angle and aortic dimensions. 53 MFS and 14 LDS patients were included (age 11.5 ± 5.8 years at first TTE and 21.2 ± 7.2 years at most recent, 68% male). The mean indexed AoR and AAo values were 2.26 ± 0.58 cm/m2 and 1.64 ± 0.35 cm/m2 at the first TTE and 1.98 ± 0.39 cm/m2 and 1.45 ± 0.25 cm/m2 at the most recent TTE, respectively. The mean AoR rotational angle was 8 ± 14°. AoR rotational angle was central (- 9 to + 14°) in 42, clockwise (≥ + 15°) in 19, and counterclockwise (≤ -10°) in 6. The six outliers with counterclockwise position were excluded. There was a positive association between the AoR rotation angle and most recent TTE indexed AoR (r2 = 0.08, p = 0.02) and AAo sizes (r2 = 0.08, p = 0.02). There was no association between AoR rotational angle and rate of change in indexed AoR size (p = 0.8). There was a positive association between AoR rotation angle and rate of change in indexed AAo size (r2 = 0.10, p = 0.01). There is an association between clockwise rotational position of the AoR and increased AoR and AAo dimensions in children and young adults with MFS and LDS patients. The rotational position of the AoR may guide follow-up in these patient populations. However, this potential risk factor for dilation warrants further investigation.

Capacity to Provide Geriatric Specialty Care for Older Adults in Community Oncology Practices.

BACKGROUND: American Society of Clinical Oncology guidelines recommend that patients ≥65 years of age starting chemotherapy undergo a geriatric assessment (GA) to inform and guide management; however, little is known about resources available in community oncology practices to implement these guidelines and to facilitate geriatric oncology research. MATERIALS AND METHODS: Oncology practices within the National Cancer Institute Community Oncology Research Program (NCORP) were electronically surveyed in 2017 regarding the availability of specialty providers, supportive services, and practice characteristics, as part of a larger survey of cancer care delivery research capacity. RESULTS: Of the 943 NCORP practices, 504 (54%) responded to the survey, representing 210 practice groups. The median new cancer cases per year ≥65 years of age was 457 (interquartile range 227-939). Of respondents, only 2.0% of practices had a fellowship-trained geriatric oncologist on staff. Geriatricians were available for consultation or comanagement at 37% of sites, and of those, only 13% had availability within the oncology clinic (5% of overall). Practice size of ≥1,000 new adult cancer cases (ages ≥18) per year was associated with higher odds (1.81, confidence interval 1.02-3.23) of geriatrician availability. Other multidisciplinary care professionals that could support GA were variably available onsite: social worker (84%), nurse navigator (81%), pharmacist (77%), dietician (71%), rehabilitative medicine (57%), psychologist (42%), and psychiatrist (37%). CONCLUSION: Only a third of community oncology practices have access to a geriatrician within their group and only 5% of community sites have access within the oncology clinic. Use of primarily self-administered GA tools that direct referrals to available services may be an effective implementation strategy for guideline-based care. IMPLICATIONS FOR PRACTICE: Only a minority of community oncology practices in the U.S. have access to geriatric specialty care. Developing models of care that use patient-reported measures and/or other geriatric screening tools to assess and guide interventions in older adults, rather than geriatric consultations, are likely the most practical methods to improve the care of this vulnerable population.

Cantu syndrome: A longitudinal review of vascular findings in three individuals.

Cantu syndrome is a rare autosomal dominant disorder caused by missense variants in ABCC9 and KCNJ8. It is characterized by hypertrichosis, neonatal macrosomia, coarse facial features, and skeletal anomalies. Reported cardiovascular anomalies include cardiomegaly, structural defects, collateral vessels, and rare report of arteriovenous malformation (AVM). Arterial dilation is reported in a few individuals including one with surgical intervention for a thoracic aortic aneurysm. The natural history of this aortopathy including the rate of progression or risk for dissection is unknown and longitudinal patient data is unavailable. We present data from vascular imaging in three individuals with genetically confirmed Cantu syndrome over 3 to 14 years of follow-up. All patients had generally stable aortic dilation, which did not reach the surgical threshold, including one individual followed closely through pregnancy. In adulthood, one individual had a maximum ascending aortic measurement of 4.2 cm. Two pediatric patients had aortic root or ascending z-scores of approximately +3. A large asymptomatic pelvic AVM was identified in one individual on head-pelvis MRI. While the data reported in these individuals is reassuring regarding the risk for progressive disease, further data from additional individuals with Cantu syndrome is needed to best inform screening recommendations, improve understanding of dissection risk, and guide management.

Preferences for breast cancer survivorship care by rural/urban residence and age at diagnosis.

PURPOSE: Preferences for survivorship care among recently treated breast cancer survivors may vary by rural-urban residence and age, but potential differences have not been examined. METHODS: We conducted a cross-sectional survey of survivorship preferences among women treated for non-metastatic breast cancer 6-24 months prior to recruitment. RESULTS: We surveyed 203 women (66% response) with American Joint Committee on Cancer Stage I or II breast cancer. Rural residents comprised 36.5% of respondents (82.7% White, non-Hispanic; 52.5% < college education) and 29.6% were ≥ 65 years. More than 95% indicated that checking for recurrence, receiving additional treatment, evaluation of side effects, and identification of late effects were "very important" reasons for follow-up care. The most common topics identified as "very important" for survivorship care discussions were recommendations for healthy behaviors (65.3%), best sources for breast cancer information (65.3%), and effects on family (53.3%) and job (53.8%). Women 65 years and older preferred to discuss follow-up care at the time of diagnosis (p = 0.002), with younger women preferring during (32%) or after treatment (39.1%). Rural survivors were significantly more likely to identify follow-up care reasons not related to the initial breast cancer as "very important" than urban survivors, including screening for other cancers, and examinations or tests for non-cancer diseases (both p = 0.01). CONCLUSIONS: Survivorship care in accordance with national recommendations will likely be accepted by breast cancer survivors. Tailoring breast cancer survivorship care by timing, integration of primary care services, and specific psychosocial topics may best meet the needs of different ages and demographics.