scholarly journals Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

2020 ◽  
Vol 9 (5) ◽  
pp. 1365 ◽  
Author(s):  
Céline Bordet ◽  
Sandrine Brice ◽  
Carole Maupain ◽  
Estelle Gandjbakhch ◽  
Bertrand Isidor ◽  
...  

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: n = 264) and once to the retrospective cohort (RCo: n = 253). The main motivations for undergoing PGT were “to remove doubt” and “for their children”. The level of anxiety increased between pre-test and result appointments (p <0.0001), returned to baseline after the result (PCo), and was moderately elevated at 4.4 years (RCo). Subjects with a history of depression or with high baseline anxiety were more likely to develop anxiety after PGT result (p = 0.004 and p <0.0001, respectively), whatever it was. Unfavourable changes in professional and/or family life were observed in 12.4% (PCo) and 18.7% (RCo) of subjects. Few regrets about PGT were expressed (0.8% RCo, 2.3% PCo). Medical benefit was not the main motivation, which emphasises the role of pre/post-test counselling. When PGT was performed by expert teams, the negative impact was modest, but careful management is required in specific categories of subjects, whatever the genetic test result.

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
M Paerregaard ◽  
J Kock ◽  
C Pihl ◽  
A Pietersen ◽  
K.K Iversen ◽  
...  

Abstract Background The QRS axis represents the sum of the amplitudes and orientation of the ventricular depolarization. In newborns, the QRS axis is generally directed downward and to the right and left axis deviation (LAD) may be associated with heart disease. Accurate interpretation of abnormalities in the QRS axis may facilitate early diagnosis of heart diseases in newborns. Purpose To describe the evolution of the QRS axis during the first four weeks of life and provide updated, digitalized, normal values from healthy newborns. Methods Electrocardiograms from 12,317 newborns (age 0–28 days) included in a regional, prospective, general population study from 2016–2018 were analyzed. Electrocardiograms were obtained and analyzed with a computerized algorithm with manual validation. The algorithm calculated the QRS mean axis using the net amplitudes of three leads I, II, and III. The four main QRS axis classifications were: “adult normal” axis (+1° to +90°), left axis deviation (LAD, 0° to −90°), right axis deviation (RAD, +91° to +180°), and extreme axis deviation (EAD, +181° to +270°). Echocardiograms were performed according to standard guidelines. Only newborns with an echocardiography excluding structural heart disease were included. Results Electrocardiograms from 12,317 newborns with a median age at examination of 12 days (52% boys) were included. The median QRS axis was 119° at the ages 0–7 days and shifted leftwards to 102° at the ages 22–28 days (p&lt;0.001). We found that girls had significant less pronounced right axis deviation than boys (111° vs 117°, p&lt;0.001) and that increasing gestational age was associated with more pronounced right axis deviation (104° vs 116°, p&lt;0.05). Infant size did not affect the axis (p&gt;0.05). Only 0.5% had LAD (0° to −90°) and 1.1% had an axis within the interval +240° to +30° indicating that a QRS axis in this expanded interval is unusual in healthy newborns. Conclusion The QRS axis showed a gradual leftward-shift during the first four weeks of life and was affected by sex and gestation age but unaffected by infant size. LAD occurred in only 0.5% of the newborns. Our data serve as updated reference values, which may facilitate clinical handling of newborns. Funding Acknowledgement Type of funding source: Foundation. Main funding source(s): This work was supported by the Danish Children Heart Foundation, Snedkermester Sophus Jacobsen and wife Astrid Jacobsen's foundation (Grant 19-R112-A5248-26048), the Research Council at Herlev-Gentofte Hospital and Toyota-Fonden, Denmark.


1970 ◽  
Vol 6 (1) ◽  
pp. 19-23 ◽  
Author(s):  
AM Hossain ◽  
NU Ahmed ◽  
M Rahman ◽  
MR Islam ◽  
G Sadhya ◽  
...  

A hospital based cross sectional study was carried out to analyze prevalence of risk factors for stroke in hospitalized patient in a medical college hospital. 100 patients were chosen using purposive sampling technique. Highest incidence of stroke was between the 6th and 7th decade. Patients came from both urban (54%) and rural (46%) areas and most of them belong to the low-income group (47%). In occupational category; service holder (28%) and retired person (21%) were the highest groups. Most of the study subjects were literate (63%). CT scan study revealed that the incidence of ischaemic stroke was 61% and haemorrhagic stroke 39%. Analysis indicated hypertension as major risk factor for stroke (63%) and major portion of the patients (42.85%) were on irregular or no treatment. Twenty four percent of the patients had heart diseases and out of 24 patients 45.83% were suffering from ischaemic heart disease. The present study detected diabetes in 21% patients. Fifty three percent of the study subjects were smoker, 39% patients had habit of betelnut chewing. Out of 26 female patients, only 23% had history of using oral contraceptives. Majority of the patients were sedentary workers (46%). Thirty seven percent of the stroke patients were obese. Among the stroke patients 9% had previous history of stroke and 3% had TIA respectively. Most of the patients (21%) were awake while they suffered from stroke and the time of occurrence was mostly in the afternoon (46%). This study found that hypertension, cigarette smoking, ischaemic heart disease and diabetes mellitus are the major risk factors prevalent in our community while other risk factors demand further study. Key words: stroke; risk factors; hospitalized patients; Bangladesh. DOI: 10.3329/fmcj.v6i1.7405 Faridpur Med. Coll. J. 2011;6(1): 19-23


2021 ◽  
pp. 1-7
Author(s):  
Marta Altieri ◽  
◽  
Mariangela Fratino ◽  
Flavia Pauri ◽  
Antonella Conte ◽  
...  

Background: Italy was one of the first affected countries by coronavirus disease 2019 (COVID-19) pandemic. Public health measures like quarantine or national lockdown were adopted, with negative psychological and clinical effects on patients with chronic diseases. To investigate the impact of lockdown on patients with multiple sclerosis (MS), we developed a 36 items self-report questionnaire. Methods: Questionnaires were emailed to 120 patients with MS and 100 with chronic migraine (CM) as a control group, matched for age, sex, and education. The questionnaire was divided into five domains, evaluating concerns about 1) MS and therapy during COVID-19 pandemic, 2) personal and family caregiving, 3) working activities, 4) general and disease-related emotions during the lockdown, 5) future expectations concerning health status, social life, and working activity. Results: patients with MS had higher scores than those with CM in domains 4 and 5, investigating respectively general and disease-related emotions and future expectations (p= 0.05 and 0.02 respectively). About half of the patients with MS expressed some concern about the need to continue their therapy during the pandemic compared to people with CM (p= 0.0002). Conclusions: Covid-19 pandemic had a more negative impact on psychological status of patients with MS compared with those with CM


BMJ Open ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. e036827 ◽  
Author(s):  
Bárbara Martins Bechtlufft ◽  
Bruno Ramos Nascimento ◽  
Craig Sable ◽  
Clara Leal Fraga ◽  
Márcia Melo Barbosa ◽  
...  

ObjectivesEchocardiographic (echo) screening is an important tool to estimate rheumatic heart disease (RHD) prevalence, but the natural history of screen-detected RHD remains unclear. The PROVAR+ (Programa de RastreamentO da VAlvopatia Reumática) study, which uses non-experts, telemedicine and portable echo, pioneered RHD screening in Brazil. We aimed to assess the mid-term evolution of Brazilian schoolchildren (5–18 years) with echocardiography-detected subclinical RHD and to assess the performance of a simplified score consisting of five components of the World Heart Federation criteria, as a predictor of unfavourable echo outcomes.SettingPublic schools of underserved areas and private schools in Minas Gerais, southeast Brazil.ParticipantsA total of 197 patients (170 borderline and 27 definite RHD) with follow-up of 29±9 months were included. Median age was 14 (12–16) years, and 130 (66%) were woman. Only four patients in the definite group were regularly receiving penicillin.Primary and secondary outcome measuresUnfavourable outcome was based on the 2-year follow-up echo, defined as worsening diagnostic category, remaining with mild definite RHD or development/worsening of valve regurgitation/stenosis.ResultsAmong patients with borderline RHD, 29 (17.1%) progressed to definite, 49 (28.8%) remained stable, 86 (50.6%) regressed to normal and 6 (3.5%) were reclassified as other heart diseases. Among those with definite RHD, 13 (48.1%) remained in the category, while 5 (18.5%) regressed to borderline, 5 (18.5%) regressed to normal and 4 (14.8%) were reclassified as other heart diseases. The simplified echo score was a significant predictor of RHD unfavourable outcome (HR 1.197, 95% CI 1.098 to 1.305, p<0.001).ConclusionThe simple risk score provided an accurate prediction of RHD status at 2-year follow-up, showing a good performance in Brazilian schoolchildren, with a potential value for risk stratification and monitoring of echocardiography-detected RHD.


2020 ◽  
Vol 11 (1) ◽  
pp. 16-21
Author(s):  
Parama Pratummas ◽  
Vachrintr Sirisapsombat ◽  
Phuttharaksa Phucharoen ◽  
Thamthiwat Nararatwanchai ◽  
Chaiyavat Chaiyasut ◽  
...  

Background: The impacts of smoking on the intestinal microbiome piece and arranged assortment have been appeared in different arranged controlled and observational clinical trials in individuals. Synbiotics are utilized not fair for the progressed survival of beneficial microorganisms included to food, however in expansion for the prompting of the duplication of specific nearby bacterial strains display within the gastrointestinal tract. Aims and Objective: This research proposes the impact of synbiotic supplement on gut-brain axis in Thai smokers in the realm of gut-related biochemical parameters and cognition. Materials and Methods: We directed a single gathering, pre-and post-test study; 20 patients lived in Mahasarakham, Fagerstrom Test for Nicotine Dependence at 4 or above, and no history of cerebrovascular diseases, brain and abdominal surgery, and not taking hormones or medications impacted brainwaves or utilizing antibiotics inside about fourteen days prior. Subjects were allocated to synbiotic supplement containing 3 kinds of prebiotics and 7 types of probiotics prior to sleep every day for about two months. Results:Results were estimated in gut-related biochemical parameters change and alternation in cognition. The present outcomes have indicated essentially decline in the scores of Fagerstrom Test for Nicotine Dependence and also the scores of craving for smoke after intervention. In additions, lipopolysaccharide (LPS) in plasma significantly decreased after the intervention. Conclusion: Further researches are obligatory to lead in finding a propensity to improve in gut-related biochemical parameter and cognition after admission of synbiotic supplement.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
J. H. Fisher ◽  
M. Kolb ◽  
M. Algamdi ◽  
J. Morisset ◽  
K. A. Johannson ◽  
...  

Abstract Background The CAnadian REgistry for Pulmonary Fibrosis (CARE-PF) is a multi-center, prospective registry designed to study the natural history of fibrotic interstitial lung disease (ILD) in adults. The aim of this cross-sectional sub-study was to describe the baseline characteristics, risk factors, and comorbidities of patients enrolled in CARE-PF to date. Methods Patients completed study questionnaires and clinical measurements at enrollment and each follow-up visit. Environmental exposures were assessed by patient self-report and comorbidities by the Charlson Comorbidity Index (CCI). Baseline characteristics, exposures, and comorbidities were described for the overall study population and for incident cases, and were compared across ILD subtypes. Results The full cohort included 1285 patients with ILD (961 incident cases (74.8%)). Diagnoses included connective tissue disease-associated ILD (33.3%), idiopathic pulmonary fibrosis (IPF) (24.7%), unclassifiable ILD (22.3%), chronic hypersensitivity pneumonitis (HP) (7.5%), sarcoidosis (3.2%), non-IPF idiopathic interstitial pneumonias (3.0%, including idiopathic nonspecific interstitial pneumonia (NSIP) in 0.9%), and other ILDs (6.0%). Patient-reported exposures were most frequent amongst chronic HP, but common across all ILD subtypes. The CCI was ≤2 in 81% of patients, with a narrow distribution and range of values. Conclusions CTD-ILD, IPF, and unclassifiable ILD made up 80% of ILD diagnoses at ILD referral centers in Canada, while idiopathic NSIP was rare when adhering to recommended diagnostic criteria. CCI had a very narrow distribution across our cohort suggesting it may be a poor discriminator in assessing the impact of comorbidities on patients with ILD.


Author(s):  
P. Havard

Abstract Low and medium level waste management means reducing the amount of waste generated during maintenance and operation of the plant, in accordance with the ALARA concept, while keeping not only the quality of the product but also the associated costs under control. All this waste is managed by ONDRAF/NIRAS, the Belgian Federal Agency responsible for waste management, including conditioning, intermediate storage and final disposal. Unfortunately, the actions taken by ONDRAF/NIRAS and the producers in order to reduce waste production have had a negative impact on waste treatment tariffs. It has become necessary to re-examine the relationship between ONDRAF/NIRAS and the producers, in order to control the costs of waste management. This problem concerns not only the treatment costs but also the disposal costs. The volume of waste has fallen from 30M3/Thwh in 1985 to 4.m3/Twh in 2000, not by chance but as the result of a new site organisation geared towards achieving this aim. This paper presents firstly the history of Belgian waste management, taking into account the impact on the associated costs, and secondly the measures that have to be taken in order to be able to decide which new technologies are necessary to go further with the objective of waste volume reduction in a new environment, namely deregulation and consequently high pressure on production costs. Finally, it presents a few conclusions.


2020 ◽  
Vol 35 (6) ◽  
pp. 923-923
Author(s):  
Walker N ◽  
Scott T ◽  
Spellman J ◽  
Rivera J ◽  
Waltzman D ◽  
...  

Abstract Objective Reviewed literature suggests that individuals with Posttraumatic Stress Disorder (PTSD) demonstrate cognitive deficits in attention, learning/memory, and executive functions. Less is known regarding the relationship between sleep disturbance and language abilities among individuals with PTSD. We hypothesized that subjective perceptions of PTSD-related sleep disturbance would impact language generativity in Veterans with PTSD. Methods 38 individuals (mean age = 46.58, SD = 13.55; 10% female) were administered a brief neurocognitive battery including measures of verbal generativity [i.e., Delis-Kaplan Executive Function System: Verbal fluency subtest], PTSD symptoms (i.e., clinically significant PTSD = &gt; 35 on the PTSD Checklist for DSM-IV), self-report measures of sleep quality (Pittsburgh Sleep Quality Inventory; PSQI), and PTSD-related sleep disturbances (PSQI – Addendum for PTSD). All participants had a history of mild traumatic brain injury (mTBI). An analysis of covariance was used to assess the contribution of PTSD-related sleep disturbance on verbal fluency in Veterans with PTSD. Post-hoc analyses were conducted. Results Those without PTSD performed better on letter fluency than those with PTSD (p=.019). There was no significant effect of PTSD (presence or absence) on letter fluency performance after controlling for subjective sleep quality, F(1, 35) = 1.43, p = .239. Follow up analyses failed to show any associations between PTSD and other cognitive measures. Conclusions PTSD related sleep disturbance accounts for a significant portion of the variance in the relationship between PTSD and verbal generativity. Individuals with a history of mTBI and current PTSD symptoms, may have worse verbal generativity but is partially accounted for by PTSD related sleep disturbance.


Cephalalgia ◽  
2019 ◽  
Vol 40 (1) ◽  
pp. 96-106 ◽  
Author(s):  
Stefan Evers ◽  
Nicole Brockmann ◽  
Oliver Summ ◽  
Ingo W Husstedt ◽  
Achim Frese

Objective Migraine is a common disorder affecting more than 10% of the population. The prevalence of migraine among physicians and, in particular, among headache specialists is widely unknown as is the impact of suffering from migraine on the attitudes towards migraine and on treatment recommendations of physicians. We designed a survey among headache specialists and neurologists and compared the results to general pain specialists and general practitioners. Methods A standardized interview in randomly selected samples of these four groups of physicians was performed. The interview included data on the prevalence of migraine and other primary headache disorders in the physician groups, self-report on their own treatment, attitudes towards migraine, and treatment recommendations for migraine. The prevalence rates were also compared to an age- and sex-matched German general population sample. Results The lifetime prevalence of migraine was higher in headache specialists (53.0%) than in general neurologists (43.0%), pain specialists (21.7%), general practitioners (19.3%), and in the general age- and sex-matched population (16.8%). Cluster headache prevalence was high in neurologists (1.9%) and in headache specialists (1.3%); episodic tension-type headache prevalence was significantly lower in general practitioners (19.5%). One reason, among others, was that being a migraine (or cluster headache) patient more often prompted the sufferers to become a specialist in neurology. Physicians with migraine rated the biopsychosocial concept of lower importance for migraine than did physicians without migraine. The self-treatment of migraine in physicians differs from the treatment recommendations to the patients. For example, only 36.4% of the headache specialists with migraine take triptans whereas 94.4% recommend triptans to their patients. Conclusions We conclude that being a headache specialist or a neurologist is associated with an increased migraine or cluster headache prevalence. This personal history of migraine leads to a more somatic view of migraine as a disorder and to different treatment recommendations as compared to self-treatment.


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