Effect of nurse-led program on the exercise behavior of coronary artery patients: Pender’s Health Promotion Model

ObjectiveTo determine the effect of nurse-led program based on Pender’s Health Promotion Model on the exercise behaviors of coronary artery patients.MethodsThe two-arm parallel, single-blind, randomized controlled trial was conducted with a total of 62 patients, intervention (n = 32) and control group (n = 30). Intervention group received a nurse-led program based on Pender’s Health Promotion Model and routine follow-ups of control group continued. The health perception, perceived exercise self efficacy, perceived exercise benefits/barriers, exercise-related effect, exercise frequency and time were assessed at baseline, 4th, 8th and 12th weeks. The data were evaluated by frequency, percentage, median, mean and standard deviation, chi-square, Friedman and Mann Whitney U tests.ResultsHealth perception (62.6 ± 9.5; median:67.0; p < 0.001), perceived exercise benefit (105.8 ± 7.4; median:107.0; p < 0.001), perceived exercise self efficacy (71.2 ± 5.4; median: 71.5; p < 0.05), exercise-related effect (31.6 ± 6.0; median:34.0; p < 0.05), exercise frequency (4.8 ± 2.2; median:6.0 days/week; p < 0.05) and time (105.9 ± 53.6; median:130.0 min/week; p < 0.05) were higher and perceived barriers (43.1 ± 3.9; median: 42.0; p < 0.001) were lower in the intervention group at 12th week.ConclusionsThe nurse-led program has been shown to increase the exercise behavior in the intervention group.Practice ImplicationsSince it enables patients to gain and maintain exercise, it is highlighted the model to be integrated into clinical practice.     

The impact of a volunteer-led community cancer awareness programme on knowledge of cancer risk factors and symptoms,screening, and barriers to seeking help

ObjectiveTo analyse the impact of a community cancer awareness programme on knowledge of cancer risk factors and symptoms, screening, and barriers to seeking help.MethodsPersonalised information through peer-led champions was delivered to 5500 people in a range of settings and Cancer Awareness Measures questionnaires were completed by 119 participants at pre-arranged sessions (convenience sampling) before and after the intervention. Data were analysed using McNemar tests, Mann-Whitney U test and a Wilcoxon Signed Rank test.ResultsData showed increase in knowledge after the intervention for cancer screening programmes (p < 0.05), recognition of warning signs for cancer (p < 0.05), and recognition of risk factors for cancer in seven of the eleven options (p < 0.001). Results suggest a decrease in perception of barriers to seeking help (p < 0.05). The intervention had a stronger impact on recognition of cancer symptoms for people who have been affected by cancer (p = 0.02).ConclusionThe Cancer Awareness Measures questionnaire proved an effective tool for evaluation and awareness improved after the intervention amongst those who completed it.Practice ImplicationsEnhancing the perceived personal relevance of information to those with experience of cancer may improve information processing and retention. The study highlights cancer awareness gaps among the public for future intervention development.     

Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome

PurposeTo determine the prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome.MethodsIndividuals (n = 310) aged 14–75 years with self-reported Klinefelter syndrome were recruited from regional and national support networks to complete a web-based survey. Depressive symptoms were assessed using the Center for Epidemiologic Studies Depression Scale. Perceived consequences (Illness Perceptions Questionnaire), perceived stigma (Perceived Social Stigmatization Scale), and coping (Ways of Coping Checklist-Revised) were also measured and evaluated as correlates of depressive symptoms.ResultsOverall, 68.8% of the study participants reported clinically significant levels of depressive symptoms as indicated by a Center for Epidemiologic Studies Depression Scale score ≥16. The use of emotion-focused coping strategies (P < 0.01), perceptions of stigmatization (P < 0.01), perceived negative consequences of Klinefelter syndrome (P < 0.01), and the importance of having children in the future (P < 0.05) were all significantly associated with depressive symptoms.ConclusionsIndividuals with Klinefelter syndrome may be at increased risk for depression. Routine screening for depressive symptoms and appropriate referral and evaluation may be warranted.     

Risk factors for residual anterolateral rotational instability after double bundle anterior cruciate ligament reconstruction: Evaluation by quantitative assessment of the pivot shift phenomenon using triaxial accelerometer

BackgroundExact knowledge of risk factors for residual anterolateral rotatinoal instability (ALRI) after anterior cruciate ligament (ACL) reconstruction is limited. The purpose of this study was to analyse possible risk factors for ALRI after ACL reconstruction.MethodsQuantitative assessment of the pivot shift phenomenon by measuring tibial acceleration was performed in 46 patients during primary double-bundle ACL reconstructions. The absolute value of the acceleration of the injured knee after provisional fixation of the ACL grafts (‘absolute residual acceleration’) and the subtraction of the acceleration of the uninjured knee from absolute residual acceleration (‘relative residual acceleration’) were defined as indicators for residual ALRI. The associations between these indicators and nine candidate risk factors were analysed using univariate and multiple regression analyses.ResultsMultiple regression analysis revealed that absolute residual acceleration was positively associated with both preoperative acceleration difference between injured and uninjured knees (β = 0.469, P < 0.001) and tibial acceleration of the uninjured knee (β = 0.597, P < 0.001). Relative residual acceleration was also positively associated with preoperative acceleration difference between injured and uninjured knees (β = 0.446, P < 0.001), but was negatively associated with tibial acceleration of the uninjured knee (β = − 0.763, P < 0.001).ConclusionsPatients with larger preoperative side-to-side difference of the pivot shift phenomenon have higher risk for both absolute and relative residual ALRIs after ACL reconstruction, whereas patients with larger pivot shift phenomenon in their uninjured knees are at higher risk for absolute residual ALRI but not for relative residual ALRI.     

Coping and Modifiable Psychosocial Factors are Associated with Mood and Quality of Life in Patients with Chronic Graft-versus-Host Disease

Chronic graft-versus-host disease (GVHD) is one of most common complications following allogeneic hematopoietic cell transplantation (HCT) and the most significant contributor to morbidity and nonrelapse mortality. The physical burdens and psychosocial difficulties of these patients have not been described systematically. An exploration into the rates and correlates of mood and quality of life (QOL) in patients with chronic GVHD is necessary to develop a clinically relevant, evidence-based intervention to promote well-being. From July 2015 to July 2017, adult allogeneic HCT survivors with established moderate to severe chronic GVHD (N = 52) enrolled in a prospective, longitudinal study at a tertiary academic center. We examined the rates and correlates of depression and anxiety symptoms (Hospital Anxiety and Depression Scale) and explored whether constructs including coping strategies (Coping Inventory for Stressful Situations), symptom burden (Lee Symptom Assessment Scale), physical functioning (Human Activity Profile), and perceived social support (Medical Outcomes Study Social Support Survey) predicted QOL trajectory over time (Functional Assessment of Cancer Therapy–Bone Marrow Transplant) at the baseline, 3-month, and 6-month follow-up. Analyses adjusted for age, sex, chronic GVHD severity, and time since chronic GVHD diagnosis. At the baseline, 3-month, and 6-month follow-up, 32.7%, 31.1%, and 37.8% of patients reported clinically significant depression symptoms, and 30.8%, 20.0%, and 36.4% reported clinically elevated anxiety symptoms, respectively. Adjusting for covariates, greater use of negative emotion-oriented coping (β = 0.20, P = .002), less use of task-oriented coping (β = –0.10, P = .021), worse physical functioning (β = –0.07, P = .004), and higher symptom burden (β = 0.07, P = .002) were independently associated with depression symptoms at baseline. Greater use of negative emotion-oriented coping (β = 0.28, P < .001) and worse physical functioning (β = –0.05, P = .034) were independently associated with anxiety at baseline. Patients who used more negative emotion-oriented coping (β = –0.58, P = .035), had less task-oriented (β = 0.40, P = .028) and social diversion-oriented coping (β = 0.35, P = .039), and had higher symptom burden (β = –0.30, P = .001), worse physical functioning (β = 0.32, P < .001), and lower perceived social support (β = 6.47, P = .003) at baseline reported poorer QOL over time. The unmet physical and psychosocial needs of patients with chronic GVHD are substantial and warrant investigation into evidence-based interventions that may improve QOL and mood by targeting modifiable psychosocial constructs identified in this study.     

Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia

PurposePulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT). Mutations in ENG and ACVRL1 underlie the vast majority of clinically diagnosed cases. The aims of this study were to characterize and compare the clinical and morphologic features of pAVMs between these two genotype groups.MethodsSixty-six patients with HHT and affected family members were included. Genotype, phenotypic data, and imaging were obtained from medical records. Morphologic features of pAVMs were analyzed using computed tomography angiography. HHT symptoms, pAVM imaging characteristics, frequency of procedural intervention, and HHT severity scores were compared between ENG and ACVRL1 genotype groups.ResultsENG mutation carriers were more likely than ACVRL1 mutation carriers to have pAVMs (P < 0.001) or multiple lesions (P = 0.03), and to undergo procedural intervention (P = 0.02). Additionally, pAVMs in ENG carriers were more likely to exhibit bilateral lung involvement and growth over time, although this did not reach statistical significance. The HHT severity score was significantly higher in ENG than in ACVRL1 (P = 0.02).ConclusionThe propensity and multiplicity of ENG-associated pAVMs may contribute to the higher disease severity in this genotype, as reflected by the HHT severity score and the frequency of interventional procedures.     

Association between peripheral blood WBCs C3aR mRNA level and plasma C3a,C3aR,IL-1β concentrations and acute exacerbation of chronic obstructive pulmonary disease

BackgroundThe relationship between C3a-C3aR, IL-1β, and the acute exacerbation of chronic obstructive pulmonary disease is still unclear. This study aims to explore the expression levels of C3aR in peripheral blood WBCs and the concentrations of C3a, C3aR, and IL-1β in plasma in healthy controls and patients with chronic obstructive pulmonary disease (COPD).MethodsWBCs C3aR level in the peripheral blood, the concentrations of C3a, C3aR, and IL-1β in plasma were measured in 60 patients with acute exacerbation of COPD (AECOPD), 30 patients with stable COPD (SCOPD), and 30 healthy controls. The baseline characteristics and clinical data collected from enrolled patients, including age, gender, laboratory indicators, and lung function. We analyzed the correlation between C3a, C3aR, IL-1β, and lung function indicators (forced expiratory volume in the first second as a percentage of predicted value, FEV₁%pred) in the AECOPD group.ResultsThe white blood cell count (WBC), neutrophil/lymphocyte ratio (NLR), and C-reactive protein (CRP) of patients in COPD were higher than in healthy controls (P < 0.05). The peripheral blood WBCs C3aR mRNA and plasma C3a, C3aR, and IL-1β in AECOPD were higher than in SCOPD and healthy controls (P < 0.05). The peripheral blood WBCs C3aR mRNA and plasma C3aR, and IL-1β in AECOPD combined with respiratory failure were higher than in the non-respiratory failure group (P < 0.05). The peripheral blood WBCs C3aR mRNA and plasma C3a, C3aR, and IL-1β in AECOPD with high-risk were higher than in the low-risk group (P < 0.05). The peripheral blood WBCs C3aR mRNA and plasma C3a, C3aR, and IL-1β in AECOPD were negatively correlated with FEV₁pred%. The peripheral blood WBCs C3aR mRNA, the plasma C3a and C3aR in AECOPD were positively correlated with IL-1β.ConclusionThe peripheral blood WBCs C3aR mRNA and plasma C3a, C3aR, and IL-1β in COPD patients were significantly related to the risk of disease deterioration. The C3a-C3aR axis may be involved in airway inflammation in patients with COPD.     

“They were just waiting to die”: Somali Bantu and Karen Experiences with Cancer Screening Pre- and Post-Resettlement in Buffalo,NY

BackgroundLittle is known about how pre-resettlement experiences affect refugees’ uptake of cancer screenings. The objective of this study was to characterize Somali Bantu and Karen experiences with cancer and cancer screenings prior to and subsequent to resettlement in Buffalo, NY in order to inform engagement by health providers.MethodsThe study was grounded in a community-based participatory research approach, with data collection and analysis guided by the Health Belief Model and life course framework. Interviews were transcribed, independently coded by two researchers, and analyzed using an immersion-crystallization approach. We conducted 15 semi-structured interviews and six interview-focus group hybrids with Somali Bantu (n = 15) and Karen (n = 15) individuals who were predominantly female (87%).ResultsCancer awareness was more prevalent among Karen compared to Somali Bantu participants. Prior to resettlement, preventative health care, including cancer screening, and treatment were unavailable or inaccessible to participants and a low priority compared with survival and acute health threats. There, Somali Bantu treated cancer-like diseases with traditional medicine (heated objects, poultices), and Karen reported traditional medicine and even late-stage biomedical treatments were ineffective due to extent of progressed, late-stage ulcerated tumors when care was sought. A fatalistic view of cancer was intertwined with faith (Somali Bantu) and associated with untreated, late-stage cancer (Karen). Karen but not Somali Bantu reported individuals living with cancer were stigmatized pre-resettlement due to the unpleasant manifestations of untreated, ulcerated tumors. Now resettled in the U.S., participants reported obtaining cancer screenings was challenged by transportation and communication barriers and facilitated by having insurance and interpretation services. While Somali Bantu women strongly preferred a female provider for screenings, Karen women felt cancer severity outweighed cultural modesty concerns in terms of provider gender.SignificanceOur findings suggest the need for culturally-relevant cancer education that incorporates the life course experiences and addresses logistical barriers in linking individuals with screening, to be complemented by trauma-informed care approaches by healthcare providers.     

A model for the adoption of ICT by health workers in Africa

PurposeTo investigate the potential of information and communication technology (ICT) adoption among maternal and child health workers in rural Nigeria.MethodsA prospective, quantitative survey design was used to collect data from quasi-randomly selected clusters of 25 rural health facilities in 5 of the 36 states in Nigeria over a 2-month period from June to July 2010. A total of 200 maternal and child health workers were included in the survey, and the data were analyzed using a modified theory of acceptance model (TAM).ResultsThere was no significant difference between ICT knowledge and attitude scores across states. There were significant differences in perceived ease of use (P < .001) and perceived usefulness scores (P = .001) across states. Midwives reported higher scores on all the constructs but a lower score on endemic barriers (which is a more positive outcome). However, the differences were only statistically significant for perceived usefulness (P = .05) and endemic barriers (P < .001). Regression analysis revealed that there was no interaction between worker group and age. Older workers were likely to have lower scores on knowledge and attitude but higher scores on perceived ease of use and perceived usefulness. Lastly, we found that worker preference for ICT application in health varied across worker groups and conflicted with government/employer priorities.ConclusionsAlthough the objective of this study was exploratory, the results provide insight into the intricacies involved in the deployment of ICT in low-resource settings. Use of an expanded TAM should be considered as a mandatory part of any pre-implementation study of ICT among health workers in sub-Saharan Africa.     

Simultaneous bilateral unicompartmental knee replacement improves gait parameters in patients with bilateral knee osteoarthritis

BackgroundUnicompartmental knee replacement (UKR) can provide reliable clinical and functional outcomes when performed simultaneously in both knees for treating bilateral osteoarthritis (OA). No studies to date have evaluated gait pattern after simultaneous bilateral UKR. The aim of this study was to evaluate changes in gait variables after bilateral single-stage UKR (B-UKR) and to compare them with the outcomes after unilateral UKR in two other groups of patients: one with bilateral knee OA (P-UKR) and one with the contralateral knee unaffected (H-UKR).MethodsThree-dimensional motion cohort data were prospectively collected before and six months after surgery; 37 were allocated to the B-UKR (n = 13), P-UKR (n = 12) or H-UKR (n = 12) group. Spatiotemporal variables (stride length, gait speed, gait cadence, stance phase, swing phase, and double support phase) and kinematic parameters (knee flexion and extension peak values, knee range of motion (ROM), and hip abduction peak value) were analyzed using mixed analysis of variance (ANOVA). The magnitude of effect for significant outcomes (ES) was determined using Cohen's d.ResultsPostoperative improvement in gait cadence (P < 0.01; ES = 1.20), walking speed (P < 0.05; ES = 0.58), stride length (P < 0.05; ES = 0.67), knee ROM (P < 0.05; ES = 0.89), knee flexion (P < 0.05; ES = 0.94), and hip abduction (P < 0.001; ES = 1.16) was noted for the B-UKR group, whereas only stride length improved (P < 0.05; ES = 0.48) for the H-UKR group, and no changes in any gait parameter were seen for the P-UKR group.ConclusionsPostoperative improvement in gait parameters was observed in the B-UKR patients with bilateral OA. Whenever possible, simultaneous bilateral UKR should be considered in such patients.     

Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians

PurposeTo describe nongenetics clinicians' perceptions and knowledge of cancer genetics and laws prohibiting genetic discrimination, attitudes toward the use of cancer genetic testing, and referral practices.MethodsInvitations to participate were sent to a random stratified sample of California Medical Association members and to all members of California Association of Nurse Practitioners and California Latino Medical Association. Responders in active practice were eligible and completed a 47-item survey.ResultsThere were 1181 qualified participants (62% physicians). Although 96% viewed genetic testing as beneficial for their patients, 75% believed fear of genetic discrimination would cause patients to decline testing. More than 60% were not aware of federal or California laws prohibiting health insurance discrimination—concern about genetic discrimination was selected as a reason for nonreferral by 11%. A positive attitude toward genetic testing was the strongest predictor of referral (odds ratio: 3.55 [95% confidence interval: 2.24-5.63], P < 0.001) in stepwise logistic regression analyses. The higher the belief in genetic discrimination, the less likely a participant was to refer (odds ratio: 0.72 [95% confidence interval: 0.518-0.991], P < 0.05), whereas more knowledge of genetic discrimination law was associated with comfort recommending (odds ratio: 1.18 [95% confidence interval: 1.11-1.25], P < 0.001) and actual referral (odds ratio: 3.55 [95% confidence interval: 2.24-5.63], P < 0.001).ConclusionConcerns about genetic discrimination and knowledge deficits may be barriers to cancer genetics referrals. Clinician education may help promote access to cancer screening and prevention.     

Engagement and communication among participants in the ClinSeq Genomic Sequencing Study

PurposeAs clinical genome sequencing expand its reach, understanding how individuals engage with this process are of critical importance. In this study, we aimed to describe internal engagement and its correlates among a ClinSeq cohort of adults consented to genome sequencing and receipt of results.MethodsThis study was framed using the precaution adoption process model (PAPM), in which knowledge predicts engagement and engagement predicts subsequent behaviors. Prior to receipt of sequencing results, 630 participants in the study completed a baseline survey. Engagement was assessed as the frequency with which participants thought about their participation in ClinSeq since enrollment.ResultsResults were consistent with the PAPM: those with higher genomics knowledge reported higher engagement (r = 0.13, P = 0.001) and those who were more engaged reported more frequent communication with their physicians (r = 0.28, P < 0.001) and family members (r = 0.35, P < 0.001) about ClinSeq. Characteristics of those with higher engagement included poorer overall health (r = −0.13, P = 0.002), greater seeking of health information (r = 0.16, P < 0.001), and more recent study enrollment (r = −0.21, P < 0.001).ConclusionThese data support the importance of internal engagement in communication related to genomic sequencing.     

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

PurposeSecondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings.MethodsProviders with genomic sequencing experience reviewed five secondary-findings reports and reported attitudes and potential clinical follow-up. Analyses compared genetic specialists and physicians without specialized genetics training, and examined how responses varied by secondary finding.ResultsGenetic specialists scored higher than other providers on four-point scales assessing understandings of reports (3.89 vs. 3.42, p = 0.0002), and lower on scales assessing reporting obligations (2.60 vs. 3.51, p < 0.0001) and burdens of responding (1.73 vs. 2.70, p < 0.0001). Nearly all attitudes differed between findings, although genetic specialists were more likely to assert that laboratories had no obligations when findings had less-established actionability (p < 0.0001 in interaction tests). The importance of reviewing personal and family histories, documenting findings, learning more about the variant, and recommending familial discussions also varied according to finding (all p < 0.0001).ConclusionGenetic specialists felt better prepared to respond to secondary findings than providers without specialized genetics training, but perceived fewer obligations for laboratories to report them, and the two groups anticipated similar clinical responses. Findings may inform development of targeted education and support.     

Prenatal healthcare providers’ Gaucher disease carrier screening practices

PurposeGaucher disease carrier screening is controversial in the medical community. The goal of this study was to explore current Gaucher disease carrier screening practices of prenatal healthcare providers.MethodsPrenatal healthcare providers were invited by email to complete an electronic-based survey.ResultsA total of 1,454 prenatal healthcare providers, including 209 genetic counselors, 450 midwives, and 795 physicians, completed the study. The majority of genetic counselors (n = 208/209, >99%), physicians (n = 415/450, 92%), and midwives (n = 634/795, 80%) currently offer Jewish ancestry disease carrier screening to couples in whom one or both partners are Jewish. Of providers who offer Jewish ancestry disease screening, the majority of genetic counselors (n = 199/208, 96%) and physicians (n = 352/415, 85%) always or sometimes offer Gaucher disease screening whereas the majority of midwives (n = 357/634, 56%) never offer Gaucher disease screening.ConclusionThis study presents the first report of Gaucher disease carrier screening practices of the prenatal healthcare providers in North America. Our results indicate that Gaucher disease carrier screening is being offered at a high rate within the scope of Jewish ancestry-based carrier screening. This may highlight a need to move away from the debate as to whether Gaucher disease carrier screening should be offered and, instead, focus on how best to provide Gaucher disease carrier screening services.Genet Med 2012:14(10):844–851     

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

PurposeEPHB4 variants were recently reported to cause capillary malformation–arteriovenous malformation 2 (CM-AVM2). CM-AVM2 mimics RASA1-related CM-AVM1 and hereditary hemorrhagic telangiectasia (HHT), as clinical features include capillary malformations (CMs), telangiectasia, and arteriovenous malformations (AVMs). Epistaxis, another clinical feature that overlaps with HHT, was reported in several cases. Based on the clinical overlap of CM-AVM2 and HHT, we hypothesized that patients considered clinically suspicious for HHT with no variant detected in an HHT gene (ENG, ACVRL1, or SMAD4) may have an EPHB4 variant.MethodsExome sequencing or a next-generation sequencing panel including EPHB4 was performed on individuals with previously negative molecular genetic testing for the HHT genes and/or RASA1.ResultsAn EPHB4 variant was identified in ten unrelated cases. Seven cases had a pathogenic EPHB4 variant, including one with mosaicism. Three cases had an EPHB4 variant of uncertain significance. The majority had epistaxis (6/10 cases) and telangiectasia (8/10 cases), as well as CMs. Two of ten cases had a central nervous system AVM.ConclusionsOur results emphasize the importance of considering CM-AVM2 as part of the clinical differential for HHT and other vascular malformation syndromes. Yet, these cases highlight significant differences in the cutaneous presentations of CM-AVM2 versus HHT.     

Midwives’ perceived barriers in communicating about depression with ethnic minority clients

ObjectiveThis study aimed to assess the most influential barriers midwives perceive in communicating about depression-related symptoms with ethnic minority clients.MethodsIn-depth interviews were held with midwives (N = 8) and Moroccan-Dutch women (N = 6) suffering from perinatal depression to identify the most salient communication barriers. Subsequently, an online survey among midwives (N = 60) assessing their perceived barriers and the occurrence of these barriers in practice was administered. Composite scores using the QUOTE methodology were calculated to determine influential barriers.ResultsThree types of barriers emerged from the interviews. Educational-related barriers, client-related barriers and midwife-related barriers. Results of the survey showed that the most influential barriers were educational-related barriers (e.g. lack of culturally sensitive depression screening instruments) and client-related barriers (e.g. cultural taboo about talking about depression).ConclusionCulturally sensitive screening instruments for depression and patient education materials should be developed to mitigate the educational-related barriers to communicating about depression. Patient education materials should also target the clients’ social environment (e.g. husbands) to help break the cultural taboo about depression.Practice implicationsBased on this study’s results, communication strategies to empower both midwives and ethnic minority clients with depression can be developed in a collaborative approach.     

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

PurposeThe aim of this study was to evaluate the progression of left ventricular hypertrophy in untreated men with Fabry disease and to assess the effects of agalsidase-β (recombinant human α-galactosidase A) on left ventricular hypertrophy.MethodsLongitudinal Fabry Registry data were analyzed from 115 men treated with agalsidase-β (1 mg/kg/2 weeks) and 48 untreated men. Measurements included baseline left-ventricular mass and at least one additional left-ventricular mass assessment over ≥2 years. Patients were grouped into quartiles, based on left-ventricular mass slopes. Multivariate logistic regression analyses identified factors associated with left ventricular hypertrophy progression.ResultsFor men in whom treatment was initiated at the age of 18 to <30 years, mean left ventricular mass slope was −3.6 g/year (n = 31) compared with +9.5 g/year in untreated men of that age (n = 15) (P < 0.0001). Untreated men had a 3.4-fold higher risk of having faster increases in left-ventricular mass compared with treated men (odds ratio: 3.43; 95% confidence interval: 1.05–11.22; P = 0.0415). A baseline age of ≥40 years was also associated with left-­ventricular hypertrophy progression (odds ratio: 5.03; 95% confidence interval: 1.03–24.49; P = 0.0457) compared with men younger than 30 years.ConclusionAgalsidase-β treatment for ≥2 years may improve or stabilize left-ventricular mass in men with Fabry disease. Further investigations may determine whether early intervention and stabilization of LVM are correlated with clinical outcomes.Genet Med15 12, 958–965.     

Improved provider preparedness through an 8-part genetics and genomic education program

PurposeLarge-scale genetics education appropriate for general practice providers is a growing priority. We describe the content and impact of a mandatory system-wide program implemented at Sanford Health.MethodsThe Imagenetics Initiative at Sanford Health developed a 2-year genetics education program with quarterly web-based modules that were mandatory for all physicians and advanced practice providers. Scores of 0 to 5 were calculated for each module on the basis of the number of objectives that the participants reported as fulfilled. In addition, the participants completed surveys before starting and after finishing the education program, which included a 7-item measure scored 7 to 28 on the perceived preparedness to practice genetics.ResultsBetween 2252 and 2822 Sanford Health employees completed each of the 8 quarterly education modules. The ratings were highest for the module about using genomics to improve patient management (mean score = 4.3) and lowest for the module about different types of genetic tests and specialists. The mean perceived preparedness scores increased from 15.7 at pre-education to 19.1 at post-education (P < .001).ConclusionWeb-based genetics education was highly effective in increasing health care providers’ confidence about using genetics. Both comfort with personal knowledge and confidence regarding access to the system’s genomic medicine experts increased significantly. The results demonstrate how scalable approaches can improve provider preparedness.     

Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing

PurposeReducing ultraviolet radiation exposure may decrease melanoma risk in the hereditary melanoma setting. It is unknown whether genetic counseling and test reporting of CDKN2A/p16 mutation status promote long-term compliance with photoprotection recommendations, especially in unaffected mutation carriers.MethodsThis study evaluated changes 2 years following melanoma genetic testing in self-reported practice of sun protection (sunscreen, photoprotective clothing, and ultraviolet radiation avoidance) among 37 members of two CDKN2A/p16 kindreds (10 unaffected carriers, 11 affected carriers, and 16 unaffected noncarriers; response rate = 64.9% of eligible participants).ResultsMultivariate profile analysis indicated that all three participant groups reported increased daily routine practice of sun protection 2 years following melanoma genetic testing (P < 0.02), with 96.9% reporting that at least one sun protection behavior was part of their daily routine, up from 78.1% at baseline (P < 0.015). Unaffected carriers (P < 0.024) and unaffected noncarriers (P < 0.027) reported significantly more frequent use of photoprotective clothing. Affected carriers maintained adherence to all sun protection behaviors. Reported sunburns in the past 6 months decreased significantly (P < 0.018).ConclusionMembers of high-risk families reported increased daily routine sun protection and decreased sunburns 2 years following melanoma genetic testing, with no net decline in sun protection following negative test results. Thus, genetic testing and counseling may motivate sustained improvements in prevention behaviors.