Ethical Aspects of Genotype Disclosure: Perceptions of Participants in a Nutrigenetic Study in Finland

2021 ◽  
pp. 1-11
Author(s):  
Suchetana De ◽  
Maaria Tringham ◽  
Anu Hopia ◽  
Raija Tahvonen ◽  
Anna-Maija Pietilä ◽  
...  

<b><i>Objective:</i></b> The aim of this study was to gain insight into the understanding of genetics and perceptions on the ethical issues related to genotype disclosure of the participants in a nutrigenetic study. <b><i>Methods:</i></b> A close-ended questionnaire was developed based on literature and discussions among the research group members. The questionnaire contained a ­total of 33 questions, which were divided into 4 categories – demographics, knowledge assessment, concerns related to participation, and opinions on disclosure of information. Majority of the participants (250 out of 281) of a nutrigenetic study, in which effect of disclosing <i>APOE</i> allele status on lifestyle changes was studied, completed the questionnaire online following the informed consent process. The responses from the knowledge assessment and the concern categories were transformed into knowledge and concern scales, respectively, and analysed by descriptive statistical methods. The statistical associations between the categorical variables were determined using χ<sup>2</sup> test of independence. The relationship between the continuous variables was assessed using Pearson product-moment correlation coefficient and internal consistency of questions by Cronbach’s alpha. <b><i>Results:</i></b> No correlation was observed between the level of education and knowledge scores. About 10% of the participants thought that the genetic predisposition would be stressful to them and their family members. <b><i>Conclusions:</i></b> Careful distribution of information before a nutrigenetic study supports understanding and reduces concerns of genetic susceptibility. In Finland, strong basic education is likely to have strengthened the trust in research process.

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Ruth Fergie ◽  
Jennifer McCaughan ◽  
Peter Eves ◽  
Siddesh Prabhavalkhar ◽  
Girish Shivashankar ◽  
...  

Abstract Background and Aims Frailty is a measure of physiological reserve and the ability to respond to physiological stress. Increasing frailty predicts adverse health outcomes in patients with end stage renal disease (ESRD) Despite this, frailty is not routinely measured in clinical practice where clinician perception of frailty is used to inform decision making. The Clinical Frailty Scale (CFS) is a clinical judgement-based score that is a useful screening tool for frailty. Increasing frailty measured by CFS is predictive of adverse outcomes in patients with advanced chronic kidney disease (CKD) including falls, worsening disability, care home admissions, hospitalizations and ultimately mortality. It has been widely used in the assessment of patients with COVID-19 to help inform decisions regarding ceiling of care. This study aimed to assess the correlation between clinician perception of frailty and frailty as measured using the CFS. Method Frailty was assessed for all patients undergoing in centre hospital haemodialysis (n=53) in a single dialysis unit in Northern Ireland. A CFS score was calculated for all patients by a clinician who routinely uses the CFS in clinical practice. Patients with a score of 1-3 were classified as not frail, 4-5 as intermediately frail and 6-9 as frail. Nephrologists received basic education about frailty. They were then asked to categorize their patients as non-frail, intermediately frail or frail. The relationship between measured and perceived frailty was assessed using percent agreement. Participant characteristics of frail patients who were misclassified as intermediately frail or non-frail by clinicians were compared to those patients correctly classified as non-frail by clinicians. Fisher’s exact test was employed for categorical variables and t-tests were employed for pseudo normally distributed continuous variables. Results Of the 53 participants, the median age was 59 years (26-89). 41.5% were women. The median time on dialysis was 1.6 years. According to the CFS, 6 patients were categorised as non-frail, 30 patients as intermediately frail and 17 as frail. Among frail participants, 41% were correctly perceived as frail by their nephrologist. Among non-frail participants, 100% were correctly perceived as non-frail by their nephrologist. Among those who were frail according to the CFS, those misclassified as intermediately frail or non-frail, were younger (median age of those misclassified 49 years vs 62 years of those not mis-classified, P=0.03) but did not differ by sex (P=1), time on dialysis (P=0.39), presence of diabetes (P=0.30) or presence of vascular disease (P=1). Conclusion In this study of adult patients undergoing chronic haemodialysis, perceived frailty correlated with measured frailty using the CFS less than 50% of the time. This suggests that clinical perception is not an accurate surrogate for frailty status in this population group. Additionally, this study suggests that younger patients with ESRD are less likely to be correctly perceived as frail. Such misclassification could influence clinical decisions for treatment, including candidacy for kidney transplantation.


2019 ◽  
Vol 5 (1) ◽  
pp. 8
Author(s):  
Mariana F. Guimarães ◽  
Fernanda A. Rabelo ◽  
Israel Figueiredo Jr.

Background: To ascertain the degree of knowledge of postpartum women about important aspects related to the neonatal screening process and whether differences of opinion exist between those who deliver in low-complexity versus high-complexity health facilities (low-risk versus high-risk pregnancies, respectively). Methods: This was a prospective, cross-sectional, questionnaire-based study. The sample consisted of postpartum women recruited from 2013 to 2015 at public maternity hospitals in the city of Niterói, Brazil. Participants were divided into two groups and completed a questionnaire consisting of Likert-scored items. Continuous variables were analyzed with the Mann-Whitney test, and categorical variables, with Fisher’s test. A confirmatory factor analysis of participants’ answers was performed. Results: Of 188 women enrolled, 54 (28.7%) had incomplete elementary education; 119 (62.2%) had attended more than six antenatal care visits. The mean age was 25.57 years. Nearly all women (n = 179, 95.2%) were roomed-in with their infants. Knowledge of neonatal screening was very similar in the high-complexity and low-complexity groups. Divergences were limited to items regarding the risks of neonatal screening. Conclusions: The degree of knowledge among postpartum women was similar among high- and low-complexity facilities. Those who attended high-complexity facilities had longer hospital stays and greater adherence to ethical issues regarding neonatal screening.


2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Diana Fernández ◽  
Carlos Brotons ◽  
Irene Moral ◽  
Mateja Bulc ◽  
Mélanie Afonso ◽  
...  

Abstract Background Patients who have experienced a cardiovascular clinical event such as a myocardial infarction or stroke qualify for intensive risk factor evaluation and management. The aim of this study is to explore lifestyle changes as well as the achievement of targets for risk factors in patients with established cardiovascular disease. Methods Cross-sectional study conducted in primary care practices. The study was carried out in six European countries (Croatia, France, Portugal, Slovenia, Spain and Turkey). Patients with established cardiovascular disease (coronary heart disease and stroke) attended in primary care were selected and assessed from January to June 2016. Patients were recruited and assessed at the practice by research assistants between 6 months and 3 years after the event. Statistical comparisons were done with the unpaired two-sided Student’s t-test for continuous variables and Chi-square test for categorical variables. Results Nine hundred and seventy-three patients (32.4% females) were assessed. About 14% of them were smokers, 32% were physically inactive, and 30% had nutritionally poor eating behaviours. LDL cholesterol target value below 70 mg/dl was achieved in about 23% of patients, and in general, women were less cardio-protected by drugs than men. Conclusions Many patients with established cardiovascular disease who attended in general practice still fail to achieve the lifestyle, risk factor, and therapeutic targets set by European guidelines. These results are relevant to general practitioners because these patients have a high risk of subsequent cardiovascular events, including MI, stroke, and death.


2020 ◽  
Vol 132 (3) ◽  
pp. 692-699 ◽  
Author(s):  
Sarah K. Bick ◽  
Marjan S. Dolatshahi ◽  
Benjamin L. Grannan ◽  
Andrew J. Cole ◽  
Daniel B. Hoch ◽  
...  

OBJECTIVEForamen ovale electrodes (FOEs) are a minimally invasive method to localize mesial temporal seizures in cases in which noninvasive methods are inconclusive. The objective of this study was to identify factors predicting the ability of FOEs to yield a diagnosis in order to determine optimal candidates for this procedure.METHODSAll cases of diagnostic investigations performed with FOEs at the authors’ institution between 2005 and 2017 were reviewed. FOE investigation was defined as diagnostic if it led to a treatment decision. Demographic and clinical variables for diagnostic and nondiagnostic investigations were compared using a Wilcoxon rank-sum test for continuous variables and Fisher’s exact test for categorical variables.RESULTSNinety-three patients underwent investigations performed with FOEs during the study period and were included in the study. FOE investigation was diagnostic in 75.3% of cases. Of patients who underwent anterior temporal lobectomy following diagnostic FOE evaluation, 75.9% were Engel class I at last follow-up (average 40.1 months). When the diagnostic and nondiagnostic FOE groups were compared, patients who had diagnostic investigations were more likely to be male (57.1% male vs 26.1% in the nondiagnostic group, p = 0.015). They were also more likely to have temporal lesions on preoperative MRI (p = 0.018).CONCLUSIONSFOEs are a useful, minimally invasive diagnostic modality resulting in a treatment decision in 75% of cases. Male patients and patients with temporal lesions on MRI may be most likely to benefit from FOE investigation.


2021 ◽  
pp. 1-10
Author(s):  
Vishal Raval ◽  
Shiming Luo ◽  
Emily C. Zabor ◽  
Arun D. Singh

<b><i>Purpose:</i></b> The aim of the study was to evaluate equivalence of growth rate and pathologic confirmation in small choroidal melanoma (SCM). <b><i>Design:</i></b> This study is a case series. <b><i>Subjects, Participants, and Controls:</i></b> A total of 61 patients with a choroidal melanocytic tumor of size 5.0–16.0 mm in the largest basal diameter and 1.0–2.5 mm in thickness were classified into the pathology-confirmed group (<i>n</i> = 19), growth-confirmed group (<i>n</i> = 30), and with combined observations (<i>n</i> = 12). <b><i>Methods:</i></b> Distribution of clinical variables (age, gender, laterality, tumor dimensions, tumor location, and presence of orange pigment, subretinal fluid, drusen, and retinal pigment epithelial [RPE] atrophy) between the groups was analyzed. Patient and disease characteristics were summarized as the median and interquartile range for continuous variables and the frequency and percentage for categorical variables. Comparisons were made using the Wilcoxon rank sum test for continuous variables and either Fisher’s exact test or the χ<sup>2</sup> test for categorical variables with a <i>p</i> value threshold of 0.05 for statistical significance. Growth rate (change in basal dimension/12 months) diagnostic of SCM was quantified. <b><i>Main Outcome Measures:</i></b> The primary aim of this study was to test the hypothesis that “growth” was diagnostic of SCM with the secondary aim of quantifying the malignant “growth rate” (growth rate of SCM). <b><i>Results:</i></b> The clinical characteristics among all 3 groups were similar except more patients with symptoms (68 vs. 20 vs. 42%, <i>p</i> = 0.004) and juxtapapillary location (<i>p</i> = 0.03) were in the pathology group than in the growth-confirmed group. Those in the combined and growth-confirmed groups had more patients with drusen (11 vs. 60 vs. 50%, <i>p</i> = 0.003) and RPE atrophy (11 vs. 23 vs. 67%, <i>p</i> = 0.003), respectively, than in the pathology group. The median time to detect growth was 9 months (range 3–26 months). The mean growth rate in basal dimension was 1.8 mm/12 months (range, 0.0–7.4 mm; [95% CI: 1.32–2.28]). <b><i>Conclusions and Relevance:</i></b> Choroidal melanocytic lesions exhibiting a defined growth rate can be clinically diagnosed as SCM without a need for biopsy.


2021 ◽  
Vol 4 (Supplement_1) ◽  
pp. 289-291
Author(s):  
L Russell ◽  
R Mangat ◽  
J Plant ◽  
S Hansen ◽  
D Armstrong ◽  
...  

Abstract Background Iron deficiency (ID) is common in patients receiving parenteral nutrition (PN), likely due to a lack of iron in the PN formula. There is no clear consensus on how often serum iron should be tested or iron supplementation should be given, at which dose or route, in patients on long-term PN. Within the Hamilton Health Sciences (HHS) home PN (HPN) program, the prevalence of ID or iron deficiency anemia (IDA) is unknown. This knowledge will contribute to better iron prescribing practices with ultimate benefit on patient’s health. Aims To assess the prevalence of ID and IDA in patients enrolled in the HHS HPN Program. The secondary aim was to assess supplementation practices for patients enrolled in the HPN program according to gastrointestinal(GI) diagnosis and duration on PN. Methods We conducted a retrospective study including consecutive adult patients enrolled in the HHS-HPN program from January 2015 to November 2020. We collected data on demographics (age, sex, and GI diagnosis), iron supplementation (dose, duration, and route), and information related to iron-deficiency (hemoglobin, serum iron, ferritin, TIBC, and folate) at pre-set intervals (enrollment, 3, 6, 12, 18, 24, 30, 36, 48, 60 months) and last measured. ID was defined as ferritin ≤45μg/L or serum iron ≤9μmol/L. IDA was defined as hemoglobin &lt;130g/L in men or &lt;120g/L in women in the context of ID. Data were expressed as median (IQR) for continuous variables and n/N(%) for categorical variables. Chi2 was performed to assess differences between groups and logistic regression to assess predictors of ID and IDA. The analysis was conducted using SPSS software(v26). Results The analysis included 125 HPN patients (50 males, median age of 55 (40–65) years). Patients received PN for a median of 195 (83–521) days. The most common diagnoses were malignancy (36.8%) and inflammatory bowel disease (23.2%); the most common indications for HPN was short bowel (29.6%) and bowel obstruction (27.2%). Iron profiles were measured in 77% of patients. At enrollment, 42.2% of patients had ID and 38.9% had IDA. Only 13% of patients with ID and 22.8% with IDA had iron supplementation (Figure 1). A total of 38 patients received iron either oral or IV (oral=44.7% vs IV=55.3%; p=0.66). There was no correlation between low levels of serum iron or ferritin with iron supplementation (p=0.23, 0.45 respectively). Age, sex, diagnosis, or reason for PN did not correlate with ID or IDA at any time point. Conclusions Iron-deficiency and IDA are common in patients enrolled in the HHS HPN program independently of age, sex, diagnosis and reason for PN. Prospective studies are needed to implement the most effective way to ensure proper monitoring and treatment of iron deficiency in this population. Funding Agencies None


2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S682-S682
Author(s):  
Maria S Rueda Altez ◽  
Lamia Soghier ◽  
Joseph M Campos ◽  
James Bost ◽  
Jiaxiang Gai ◽  
...  

Abstract Background Blood cultures have high sensitivity to detect bacteremia in septic neonates when &gt;=1 ml of blood is collected. Neonatologists often cite low confidence in microbiologic sampling as rationale for continuing antibiotics without a focus of infection despite negative blood cultures, resulting in prolonged antimicrobial therapy. We aim to describe the blood culture sample volumes in NICU patients, to identify factors associated with sample volumes &lt; 1ml, and to compare the sample volumes of patients treated for culture-negative sepsis with those with bloodstream infections and those treated for a ≤72-hour sepsis rule-out Methods Data from this observational cohort study were collected retrospectively and prospectively from NICU patients with blood cultures obtained from September 2018 to February 2019. Clinical data were collected through chart review. All inoculated culture bottles were weighed for volume calculation. We determined the association of age, weight, sample source, and time of collection with volume &lt; 1mL. Continuous variables were analyzed using Wilcoxon-Mann-Whitney, and categorical variables using chi-squared test. For aim 3, the volumes of the groups were compared using analysis of variance. Results A total of 310 blood cultures were identified, corresponding to 159 patients. Of these, 49 (16%) were positive. Among the negative blood cultures, 86% were collected in patients who subsequently received antibiotics (Figure 1). Median inoculated volume was 0.6 ml (IQR: 0.1-2.4). Weight and age at time of culture collection, source of sample, and time of collection were not significantly associated with the inoculation of &lt; 1ml of blood. Median volume of blood was 0.6ml (0.3-0.6) for sepsis rule-out, 0.6ml (0.2-0.6) for bloodstream infection, and 0.6ml (0.6-1.4) for culture-negative sepsis. No difference was found among the three groups (p=0.54) Figure 1. Classification of blood cultures identified during study period Conclusion The blood volume collected for cultures in the NICU is lower than recommended. Clinical and environmental characteristics are not significantly associated with the inoculated volume. The volume of blood sampled does not differ in patients with culture-negative sepsis, bloodstream infection and sepsis rule-out, and should not be a justification for longer duration of antibiotic therapy Disclosures All Authors: No reported disclosures


Author(s):  
Ella Nissan ◽  
Abdulla Watad ◽  
Arnon D. Cohen ◽  
Kassem Sharif ◽  
Johnatan Nissan ◽  
...  

Polymyositis (PM) and dermatomyositis (DM) are autoimmune-mediated multisystemic myopathies, characterized mainly by proximal muscle weakness. A connection between epilepsy and PM/DM has not been reported previously. Our study aim is to evaluate this association. A case–control study was conducted, enrolling a total of 12,278 patients with 2085 cases (17.0%) and 10,193 subjects in the control group (83.0%). Student’s t-test was used to evaluate continuous variables, while the chi-square test was applied for the distribution of categorical variables. Log-rank test, Kaplan–Meier curves and multivariate Cox proportional hazards method were performed for the analysis regarding survival. Of the studied 2085 cases, 1475 subjects (70.7%) were diagnosed with DM, and 610 patients (29.3%) with PM. Participants enrolled as cases had a significantly higher rate of epilepsy (n = 48 [2.3%]) as compared to controls (n = 141 [1.4%], p < 0.0005). Using multivariable logistic regression analysis, PM was found only to be significantly associated with epilepsy (OR 2.2 [95%CI 1.36 to 3.55], p = 0.0014), whereas a non-significant positive trend was noted in DM (OR 1.51 [95%CI 0.99 to 2.30], p = 0.0547). Our data suggest that PM is associated with a higher rate of epilepsy compared to controls. Physicians should be aware of this comorbidity in patients with immune-mediated myopathies.


Healthcare ◽  
2021 ◽  
Vol 9 (8) ◽  
pp. 939
Author(s):  
Ana Fresan ◽  
Alma Delia Genis-Mendoza ◽  
María Lilia López-Narváez ◽  
Tania Guadalupe Gómez-Peralta ◽  
Daniela Georgina Aguilar-Velázquez ◽  
...  

Background/Aim: Obesity in adolescents is increasing; as such, the aim of this study was to determine the prevalence of obesity in Mexican adolescents and examine its possible association with hours of sleep. Methods: A school-based cross-sectional study was carried out. This study included 863 adolescents aged between 11 and 16 years. The prevalence of obesity was estimated using the body mass index (BMI). The duration of sleep (and other information) was assessed by a self-reported questionnaire. The Cochran–Mantel–Hansel test for categorical variables and a general linear model for continuous variables were used to evaluate the interaction effect of BMI and sex with respect to sleeping and assessed activity conditions. Results: It was found that 47.6% of the adolescents were overweight/obese. Men were more frequently overweight/obese than women (52.6% vs. 41.8%, p = 0.002). Moreover, overweight/obese adolescents were younger and spent fewer daily hours watching television (p < 0.05). Men practiced sports more hours per week than women (p = 0.04). However, women spent more daily time on the internet (p = 0.05), and overweight/obese adolescent women slept fewer hours than overweight/obese men and adolescents with normal weight (p = 0.008). Conclusions: The development of strategies for the prevention of overweight/obesity and the improvement of sleep duration should include a gender perspective to improve health habits in Mexican adolescents.


Author(s):  
Hung-Chih Chen ◽  
Hung-Yu Lin ◽  
Michael Chia-Yen Chou ◽  
Yu-Hsun Wang ◽  
Pui-Ying Leong ◽  
...  

The purpose of this study is to evaluate the relationship between hydroxychloroquine (HCQ) and diabetic retinopathy (DR) via the national health insurance research database (NHIRD) of Taiwan. All patients with newly diagnosed type 2 diabetes (n = 47,353) in the NHIRD (2000–2012) were enrolled in the study. The case group consists of participants with diabetic ophthalmic complications; 1:1 matching by age (±1 year old), sex, and diagnosis year of diabetes was used to provide an index date for the control group that corresponded to the case group (n = 5550). Chi-square test for categorical variables and Student’s t-test for continuous variables were used. Conditional logistic regression was performed to estimate the adjusted odds ratio (aOR) of DR. The total number of HCQ user was 99 patients (1.8%) in the case group and 93 patients (1.7%) in the control group. Patients with hypertension (aOR = 1.21, 95% CI = 1.11–1.31) and hyperlipidemia (aOR = 1.65, 95% CI = 1.52–1.79) significantly increased the risk of diabetic ophthalmic complications (p < 0.001). Conversely, the use of HCQ and the presence of rheumatoid diseases did not show any significance in increased risk of DR. HCQ prescription can improve systemic glycemic profile, but it does not decrease the risk of diabetic ophthalmic complications.


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