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BMC Cancer ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Linda Rainey ◽  
Daniëlle van der Waal ◽  
Louise S. Donnelly ◽  
Jake Southworth ◽  
David P. French ◽  
...  

Abstract Background The Predicting Risk of Cancer at Screening (PROCAS) study provided women who were eligible for breast cancer screening in Greater Manchester (United Kingdom) with their 10-year risk of breast cancer, i.e., low (≤1.5%), average (1.5–4.99%), moderate (5.-7.99%) or high (≥8%). The aim of this study is to explore which factors were associated with women’s uptake of screening and prevention recommendations. Additionally, we evaluated women’s organisational preferences regarding tailored screening. Methods A total of 325 women with a self-reported low (n = 60), average (n = 125), moderate (n = 80), or high (n = 60) risk completed a two-part web-based survey. The first part contained questions about personal characteristics. For the second part women were asked about uptake of early detection and preventive behaviours after breast cancer risk communication. Additional questions were posed to explore preferences regarding the organisation of risk-stratified screening and prevention. We performed exploratory univariable and multivariable regression analyses to assess which factors were associated with uptake of primary and secondary breast cancer preventive behaviours, stratified by breast cancer risk. Organisational preferences are presented using descriptive statistics. Results Self-reported breast cancer risk predicted uptake of (a) supplemental screening and breast self-examination, (b) risk-reducing medication and (c) preventive lifestyle behaviours. Further predictors were (a) having a first degree relative with breast cancer, (b) higher age, and (c) higher body mass index (BMI). Women’s organisational preferences for tailored screening emphasised a desire for more intensive screening for women at increased risk by further shortening the screening interval and moving the starting age forward. Conclusions Breast cancer risk communication predicts the uptake of key tailored primary and secondary preventive behaviours. Effective communication of breast cancer risk information is essential to optimise the population-wide impact of tailored screening.


2022 ◽  
pp. 174749302110690
Author(s):  
Charlotte CM Zuurbier ◽  
Jacoba P Greving ◽  
Gabriel JE Rinkel ◽  
Ynte M Ruigrok

Background: Preventive screening for intracranial aneurysms is effective in persons with a positive family history of aneurysmal subarachnoid hemorrhage (aSAH), but for many relatives of aSAH patients, it can be difficult to assess whether their relative had an aSAH or another type of stroke. Aim: We aimed to develop a family history questionnaire for people in the population who believe they have a first-degree relative who had a stroke and to assess its accuracy to identify relatives of aSAH patients. Methods: A questionnaire to distinguish between aSAH and other stroke types (ischemic stroke and intracerebral hemorrhage) was developed by a team of clinicians and consumers. The level of agreement between the questionnaire outcome and medical diagnosis was pilot tested in 30 previously admitted aSAH patients. Next, the sensitivity and specificity of the questionnaire were assessed in 91 first-degree relatives (siblings/children) of previously admitted stroke patients. Results: All 30 aSAH patients were identified by the questionnaire in the pilot study; 29 of 30 first-degree relatives of aSAH patients were correctly identified. The questionnaire had a sensitivity of 97% (95% confidence interval (CI) = 83–100%) and a specificity of 93% (95% CI = 84–98%) when tested in the first-degree relatives of stroke patients. Conclusion: Our questionnaire can help persons to discriminate an aSAH from other types of stroke in their affected relative. This family history questionnaire is developed in the Netherlands but could also be used in other countries after validation.


Endocrines ◽  
2022 ◽  
Vol 3 (1) ◽  
pp. 29-42
Author(s):  
Jorge Gabriel Ruiz-Sánchez ◽  
Mario Pazos Guerra ◽  
Diego Meneses ◽  
Isabelle Runkle

The definition of primary hyperaldosteronism (PA) has shifted, as progress has been made in understanding the disease. PA can be produced by unilateral or bilateral cortical adrenal hyperproduction of aldosterone, due to hyperplasia, aldosterone-secreting cell clusters, aldosterone-producing macro or micro adenoma/s, and combinations of the above, or by an aldosterone-producing carcinoma. PA is a highly prevalent disease, affecting close to 10% of the hypertensive population. However, PA is clearly underdiagnosed. The purpose of this review is to address current knowledge of PA’s clinical manifestations, as well as current methods of diagnosis. PA is associated with a higher cardiovascular morbidity and mortality than essential hypertension with similar blood pressure control. Young hypertensive patients, those with a first-degree relative with PA or ictus, and/or those with apnea/hypopnea syndrome, moderate/severe/resistant hypertension, adrenal incidentaloma, and/or hypokalemia should be screened for PA. PA can induce atrial fibrillation (AF), and those patients should also be screened for PA. We propose the use of the Captopril challenge test (CCT), oral salt loading, or intravenous salt loading for PA diagnosis, given their availability in the majority of hospital centers. CCT could be first-line, since it is safe and easy to perform.


2022 ◽  
pp. 1-8
Author(s):  
Emer Doolan ◽  
Andrea Ryan

The authors describe a case report of retinal angioid streaks (AS) in a patient with congenital dyserythropoietic anaemia (CDA) type II and compare the retinal findings to those of an affected first-degree relative without ocular manifestations of the disease. A 52-year-old man with a confirmed diagnosis of CDA type II has been dependent on treatment with regular transfusions and chelating agents. He presents with bilateral retinal AS. The subject’s brother, who also has CDA type II, underwent splenectomy in childhood, and has required no treatment since then. He has no ocular manifestations of the disease. To the authors’ knowledge, this is only the second time that the presence of retinal AS has been reported in a case of CDA type II. It has been reported more frequently with CDA types I and III. The milder course of disease in the subject’s brother likely accounts for the differing retinal findings. The authors explore the pathophysiology of AS in this disease, and the differential diagnosis of chelating agent toxicity. Diagnostic uncertainty around retinal findings can lead to withholding of essential systemic treatment and inappropriate ophthalmological follow-up. It is recommended that all patients with CDA undergo eye examinations.


2021 ◽  
pp. 154041532110636
Author(s):  
Jessica Calderón-Mora ◽  
Luis Alvarado ◽  
Alok Dwivedi ◽  
Navkiran Shokar

Introduction: Much of the data related to colorectal cancer (CRC) disease burden among Hispanics is grouped together. The purpose of our study was to better understand the current screening uptake across Hispanic subgroups. Methods: Data from the CRC screening portion of the 2010 and 2015 Adult Cancer Control Module of the National Hispanic Interview Survey (NHIS). A univariate and multivariable analysis were conducted. Results: Total sample size: 7,389. Subgroup with most participants: Mexican-American. For all Hispanics, 24% were up to date with CRC screening. In adjusted analyses, variables significantly associated with being up to date among all Hispanics were: older age (prevalence ratio [PR] = 1.03; p = <.0001), female sex (PR = 1.28; p = 0.003), more than high school education (PR = 1.25; p = 0.006), annual household income between $45,000 and $74,999 ( PR = 1.51; p = 0.018), living in the United States for 15 years or more (PR = 1.45; p = 0.039), having health insurance (PR = 2.06; p = <.0001), and having a first-degree relative with CRC (PR = 1.35; p < .0001). Discussion: Various social determinants of health were found to be associated with increased prevalence of being up to date with CRC screening among different Hispanic subgroups. Conclusion: These findings serve as a starting point to develop interventions tailored to specific Hispanic subgroups with social determinants of health, namely low socioeconomic status, at the forefront of development.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Amy Goodwin ◽  
Emily J. H. Jones ◽  
Simona Salomone ◽  
Luke Mason ◽  
Rebecca Holman ◽  
...  

AbstractAttention-deficit/hyperactivity disorder (ADHD) is first diagnosed during middle childhood, when patterns of difficulty are often established. Pre-emptive approaches that strengthen developing cognitive systems could offer an alternative to post-diagnostic interventions. This proof-of-concept randomised controlled trial (RCT) tested whether computerised gaze-based attention training is feasible and improves attention in infants liable to develop ADHD. Forty-three 9- to 16-month-old infants with a first-degree relative with ADHD were recruited (11/2015–11/2018) at two UK sites and randomised with minimisation by site and sex to receive 9 weekly sessions of either (a) gaze-contingent attention training (intervention; n = 20); or (b) infant-friendly passive viewing of videos (control, n = 23). Sessions were delivered at home with blinded outcome assessments. The primary outcome was a composite of attention measures jointly analysed via a multivariate ANCOVA with a combined effect size (ES) from coefficients at baseline, midpoint and endpoint (Registration: ISRCTN37683928). Uptake and compliance was good but intention-to-treat analysis showed no significant differences between 20 intervention and 23 control infants on primary (ES −0.4, 95% CI −0.9 to 0.2; Complier-Average-Causal Effect ES −0.6, 95% CI −1.6 to 0.5) or secondary outcomes (behavioural attention). There were no adverse effects on sleep but a small increase in post-intervention session fussiness. Although feasible, there was no support for short-term effects of gaze-based attention training on attention skills in early ADHD. Longer-term outcomes remain to be assessed. The study highlights challenges and opportunities for pre-emptive intervention approaches to the management of ADHD.


2021 ◽  
pp. jmedgenet-2021-107904
Author(s):  
Andrew Lee ◽  
Xin Yang ◽  
Jonathan Tyrer ◽  
Aleksandra Gentry-Maharaj ◽  
Andy Ryan ◽  
...  

BackgroundEpithelial tubo-ovarian cancer (EOC) has high mortality partly due to late diagnosis. Prevention is available but may be associated with adverse effects. A multifactorial risk model based on known genetic and epidemiological risk factors (RFs) for EOC can help identify women at higher risk who could benefit from targeted screening and prevention.MethodsWe developed a multifactorial EOC risk model for women of European ancestry incorporating the effects of pathogenic variants (PVs) in BRCA1, BRCA2, RAD51C, RAD51D and BRIP1, a Polygenic Risk Score (PRS) of arbitrary size, the effects of RFs and explicit family history (FH) using a synthetic model approach. The PRS, PV and RFs were assumed to act multiplicatively.ResultsBased on a currently available PRS for EOC that explains 5% of the EOC polygenic variance, the estimated lifetime risks under the multifactorial model in the general population vary from 0.5% to 4.6% for the first to 99th percentiles of the EOC risk distribution. The corresponding range for women with an affected first-degree relative is 1.9%–10.3%. Based on the combined risk distribution, 33% of RAD51D PV carriers are expected to have a lifetime EOC risk of less than 10%. RFs provided the widest distribution, followed by the PRS. In an independent partial model validation, absolute and relative 5-year risks were well calibrated in quintiles of predicted risk.ConclusionThis multifactorial risk model can facilitate stratification, in particular among women with FH of cancer and/or moderate-risk and high-risk PVs. The model is available via the CanRisk Tool (www.canrisk.org).


2021 ◽  
Vol 12 ◽  
pp. 566
Author(s):  
Waneerat Galassi ◽  
Warin Yuyangkate ◽  
Paweena Paholthep ◽  
Thipsumon Tangsriwong ◽  
Ponnarong Jaikon ◽  
...  

Background: The prevalence of familial unruptured intracranial aneurysm (UIA) in Thai population was unknown. Methods: Our study population comprised first-degree relatives of patients who were diagnosed with aneurysmal subarachnoid hemorrhage (aSAH) in two cerebrovascular neurosurgical centers from January 2018 to December 2018. The volunteers underwent three-dimensional time-of-flight magnetic resonance angiography for screening intracranial aneurysms (IA). Those who were reported positive or suspected of IA then underwent computed tomography angiography for confirmation. Results: We identified 12 patients who had 12 unruptured IAs (UIAs) from among 93 first-degree relatives. The prevalence of UIA among our study population was 12.9%. An estimated prevalence of UIA among Thai population was 9.05% (95% confidence interval [CI] 7.32–10.78). Of the 93 relatives, 84 had only one first-degree relative who suffered aSAH. Siblings posed a higher risk for UIA than offspring (16% vs. 9.5%), but the difference was not statistically significant (odds ratio 1.810, 95% CI 0.50–6.50, P = 0.274). The most common aneurysm location was the anterior cerebral artery territory (50%). Conclusion: The prevalence of familial UIA in a Thai population was relatively high. There was no significant between-group difference in the occurrence of UIA between the siblings and offspring of the aSAH patients.


2021 ◽  
pp. 174749302110570
Author(s):  
Sabine Voigt ◽  
Siham Amlal ◽  
Emma A Koemans ◽  
Ingeborg Rasing ◽  
Ellis S van Etten ◽  
...  

Aim To investigate whether there is a topographical and temporal pattern of index and recurrent intracerebral hemorrhages (ICH) in Dutch-type hereditary Cerebral Amyloid Angiopathy (D-CAA) to increase our understanding on CAA-related ICH development. Methods We included patients with DNA confirmed D-CAA or a history with ≥1 lobar ICH and ≥1 first-degree relative with D-CAA. Topographical pattern was studied by location (proportion frontal/parietal/temporal/occipital; infra/supratentorial and occurrence ratios relative to lobe volume) and volume of index and recurrent ICHs were determined on CT. Temporal pattern was examined by time between recurrent ICHs was retrieved from medical records. Results We included 72 patients with D-CAA (mean age at index ICH 55 years) with in total 214 ICH. The median follow-up time was 7 years (range 0.8 to 28 years). All ICH were lobar and supratentorial. The index ICH was most frequently located in the occipital lobe (34% vs. 22% in the other three lobes; with index ICH occurrence ratios relative to lobe volume of 1.9 for occipital, 1.0 for temporal, 1.2 for parietal, and 0.5 for frontal, p = 0.001). In 16/47 (34%) patients with multiple ICH, the second ICH was located in the same lobe as the index ICH. The median time-interval between subsequent ICH was #1-2 ICH 27 months, #2-3 ICH 14 months, and #3-4 ICH 7 months (p = 0.6) There was no difference in volume between index and recurrent ICHs. Conclusions We found that index and recurrent ICHs in D-CAA have a preference for the occipital lobe and are least frequent in the frontal lobe, which adds to the existing knowledge of histopathological studies on amyloid load in CAA. Surprisingly, there was no acceleration in time nor gradual increase of hematoma volume between subsequent ICHs.


2021 ◽  
Author(s):  
Hemang Parikh ◽  
Carina Törn ◽  
Xiang Liu ◽  
Suna Onengut-Gumuscu ◽  
Kevin Counts ◽  
...  

Abstract The Environmental Determinants of Diabetes in the Young (TEDDY) study enrolled 8,676 children, 3-4 months of age, born with HLA-susceptibility genotypes for islet autoimmunity (IA) and type 1 diabetes (T1D). Whole-genome sequencing (WGS) was performed in 1,119 children in a nested case-control study design. Telomere length was estimated from WGS data using five tools: Computel, Telseq, Telomerecat, qMotif and Motif_counter. The estimated median telomere length was 5.10 kb (IQR: 4.52 kb – 5.68 kb) using Computel. The age when the blood sample was drawn had a significant negative correlation with telomere length (P = 0.003). European children, particularly those from Finland (P = 0.041) and from Sweden (P = 0.001), had shorter telomeres than children from the U.S.A. Paternal age (P = 0.019) was positively associated with telomere length. First degree relative status, presence of gestational diabetes in the mother, and maternal age did not have a significant impact on estimated telomere length. HLA-DR4/4 or HLA-DR4/X children had significantly longer telomeres compared to children with HLA-DR3/3 or HLA-DR3/9 haplogenotypes (P = 0.008). Estimated telomere length was not significantly different with respect to any IA (P = 0.377), IAA-first (P = 0.248), GADA-first (P = 0.248) or T1D (P = 0.861). These results suggest that telomere length has no major impact on the risk for IA, the first step to develop T1D. Nevertheless, telomere length was shorter in the T1D high prevalence populations, Finland and Sweden.


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