scholarly journals What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies

Healthcare ◽  
2018 ◽  
Vol 6 (3) ◽  
pp. 96 ◽  
Author(s):  
Courtney Scherr ◽  
Sharon Aufox ◽  
Amy Ross ◽  
Sanjana Ramesh ◽  
Catherine Wicklund ◽  
...  
Keyword(s):  
Critical Review ◽  
Large Scale ◽  
Underserved Populations ◽  
Cost Effective ◽  
Review Of The Literature ◽  
Public Health Perspective ◽  
Effective Prevention ◽  
Variant Of Uncertain Significance ◽  
Increased Risk ◽  
To Receive

From a public health perspective, the “All of Us” study provides an opportunity to isolate targeted and cost-effective prevention and early-detection strategies. Identifying motivations for participation in large-scale genomic sequencing (LSGS) studies, and motivations and preferences to receive results will help determine effective strategies for “All of Us” study implementation. This paper offers a critical review of the literature regarding LSGS for adult onset hereditary conditions where results could indicate an increased risk to develop disease. The purpose of this review is to synthesize studies which explored peoples’ motivations for participating in LSGS studies, and their desire to receive different types of genetic results. Participants were primarily motivated by altruism, desire to know more about their health, and curiosity. When asked about hypothetically receiving results, most participants in hypothetical studies wanted all results except those which were uncertain (i.e., a variant of uncertain significance (VUS)). However, participants in studies where results were returned preferred to receive only results for which an intervention was available, but also wanted VUS. Concerns about peoples’ understanding of results and possible psychosocial implications are noted. Most studies examined populations classified as “early adopters,” therefore, additional research on motivations and expectations among the general public, minority, and underserved populations is needed.

scholarly journals Development of High-Throughput Multiplex Serology to Detect Serum Antibodies against Coxiella burnetii

2021 ◽  
Vol 9 (11) ◽  
pp. 2373
Author(s):  
Rima Jeske ◽  
Larissa Dangel ◽  
Leander Sauerbrey ◽  
Dimitrios Frangoulidis ◽  
Lauren R. Teras ◽  
...  
Keyword(s):  
Coxiella Burnetii ◽  
High Throughput ◽  
Large Scale ◽  
Q Fever ◽  
Reference Group ◽  
Clinical Manifestations ◽  
Cost Effective ◽  
Population Monitoring ◽  
Increased Risk ◽  
Multiplex Serology

The causative agent of Q fever, the bacterium Coxiella burnetii (C. burnetii), has gained increasing interest due to outbreak events and reports about it being a potential risk factor for the development of lymphomas. In order to conduct large-scale studies for population monitoring and to investigate possible associations more closely, accurate and cost-effective high-throughput assays are highly desired. To address this need, nine C. burnetii proteins were expressed as recombinant antigens for multiplex serology. This technique enables the quantitative high-throughput detection of antibodies to multiple antigens simultaneously in a single reaction. Based on a reference group of 76 seropositive and 91 seronegative sera, three antigens were able to detect C. burnetii infections. Com1, GroEL, and DnaK achieved specificities of 93%, 69%, and 77% and sensitivities of 64%, 72%, and 47%, respectively. Double positivity to Com1 and GroEL led to a combined specificity of 90% and a sensitivity of 71%. In a subgroup of seropositives with an increased risk for chronic Q fever, the double positivity to these markers reached a specificity of 90% and a sensitivity of 86%. Multiplex serology enables the detection of antibodies against C. burnetii and appears well-suited to investigate associations between C. burnetii infections and the clinical manifestations in large-scale studies.

scholarly journals Prevalence and associated factors of playing-related musculoskeletal disorders among music students in Europe. Baseline findings from the Risk of Music Students (RISMUS) longitudinal multicentre study

PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0242660
Author(s):  
Cinzia Cruder ◽  
Marco Barbero ◽  
Pelagia Koufaki ◽  
Emiliano Soldini ◽  
Nigel Gleeson
Keyword(s):  
Multicentre Study ◽  
Musculoskeletal Disorders ◽  
Associated Factors ◽  
Large Scale ◽  
Perceived Exertion ◽  
Music Students ◽  
Cross Sectional ◽  
Effective Prevention ◽  
Targeted Interventions ◽  
Increased Risk

Musculoskeletal (MSK) conditions among professional musicians and music students are frequent and may have significant physical and psychosocial consequences on their lives and/or on their playing abilities. The Risk of Music Students (RISMUS) research project was set up in 2018 to longitudinally identify factors associated with increased risk of playing-related musculoskeletal disorders (PRMDs) in a large sample of music students enrolled in pan-European institutions. The aim of this cross-sectional study was to describe the prevalence of playing-related musculoskeletal disorders (PRMDs) in this novel population at baseline of the RISMUS project. A further goal was to begin to identify variables that might be associated with the self-reported presence of PRMDs among music students. Eight hundred and fifty students from fifty-six conservatories and music universities in Europe completed a web-based questionnaire on lifestyle and physical activity participation levels, musical practice habits, health history and PRMDs, psychological distress, perfectionism and fatigue. A total of 560 (65%) out of 850 participants self-reported a positive history of painful MSK conditions in the last 12 months, 408 (48%) of whom self-reported PRMDs. Results showed that coming from West Europe, being a first- or a second-year Masters student, having more years of experience and higher rates of perceived exertion after 45 minutes of practice without breaks were factors significantly associated with self-reported presence of PRMDs. According to the authors’ knowledge, a large-scale multicentre study investigating prevalence and associated factors for PRMDs among music students at different stages of their education (from Pre-college to Masters levels) has not been conducted before. The high prevalence of PRMDs among music students, especially those studying at university-level, has been confirmed in this study and associated factors have been identified, highlighting the need for relevant targeted interventions as well as effective prevention and treatment strategies.

scholarly journals Identifying target groups for the prevention of depression among caregivers of dementia patients

2011 ◽  
Vol 24 (2) ◽  
pp. 298-306 ◽  
Author(s):  
Karlijn J. Joling ◽  
Filip Smit ◽  
Harm W. J. van Marwijk ◽  
Henriëtte E. van der Horst ◽  
Philip Scheltens ◽  
...  
Keyword(s):  
Health Gain ◽  
Depression Scale ◽  
Cost Effective ◽  
Risk Groups ◽  
Epidemiologic Studies ◽  
Risk Indicators ◽  
Dementia Caregivers ◽  
Effective Prevention ◽  
Increased Risk ◽  
Race Ethnicity

ABSTRACTBackground: Depression in informal caregivers of persons with dementia is a major, costly and growing problem. However, it is not yet clear which caregivers are at increased risk of developing depression. With this knowledge preventive strategies could focus on these groups to maximize health gain and minimize effort.Methods: The onset of clinically relevant depression was measured with the Center for Epidemiologic Studies - Depression Scale in 725 caregivers who were not depressed at baseline and who were providing care for a relative with dementia. Caregivers were followed over 18 months. The indices calculated to identify the most important risk indicators were: odds ratio, attributable fraction, exposure rate and number needing to be treated.Results: The following significant indicators of depression onset were identified: increased initial depressive symptoms, poor self-rated health status and white or Hispanic race/ethnicity. The incidence of depression would decrease by 72.3% (attributive fraction) if these risk indicators together are targeted by a completely effective intervention. Race/ethnicity was not a significant predictor if caregivers of patients who died or were institutionalized were left out of the analyses.Conclusion: Detection of only a few characteristics makes it possible to identify high-risk groups in an efficient way. Focusing on these easy-to-assess characteristics might contribute to a cost-effective prevention of depression in caregivers.

scholarly journals A CRITICAL REVIEW ON HRIDAYARNAVA RASA - AN HERBOMINERAL FORMULATION

2021 ◽  
Vol 9 (9) ◽  
pp. 2213-2218
Author(s):  
Pavithra G ◽  
Laxmi. B. Kurle ◽  
Ravi. R. Chavan
Keyword(s):  
Cardiovascular Diseases ◽  
Critical Review ◽  
Conventional Medicine ◽  
Indian Subcontinent ◽  
Cost Effective ◽  
Synthetic Drugs ◽  
Increased Risk ◽  
Cardiac Disorders ◽  
Conventional Systems ◽  
Effective Drugs

Hridroga is a broad entity considered in Ayurveda, covering all cardiovascular diseases. According to current stud- ies, 17.5 million people die each year from cardiovascular diseases, with an estimated 31 per cent of death world- wide. Among them 7.4 million died due to coronary heart disease,6.7 million due to stroke, atherosclerosis etc., hence it is needed to discover effective drugs which can prevent death due to cardiovascular diseases and other cardiac disorders. Methods: Statins and fibrates are the most prescribed medications for cardiac disorders. Though there is extensive evidence about their safety and efficacy, but the use of these synthetic drugs has certain adverse effects; Myalgia, hepatopathy, renal failure, increased risk of diabetes and rhabdomyolysis are the most common side effects from statin use. Considering the wide magnitude of cardiac disorders in the Indian subcontinent and the absence of promising therapy with safety in conventional systems; the suffering population is turning towards cer- tain other alternatives for safe and effective remedies. Hridayarnava rasa, one such Herbo- mineral compound formulation containing Kajjali and Tamra bhasma as an integral component indicated in the treatment of abnormal lipid levels. Results: Hridayarnava rasa is thereby useful in tackling Hridroga in specific, Atherosclerosis. There- fore, this formulation can be enforced in place of statins of conventional medicine. Discussion: This review is mainly focused on different aspects of Herbo mineral ayurvedic formulation Hridayarnava rasa. It is well recog- nized in Ayurveda that most cardiac disorders run a chronic course and are difficult to treat, there are many formu- lations in the market for Hridroga yet there is scope for drugs in this disease, Hridayarnava rasa is one suchformulation that is designed perfectly for kaphaja Hridroga, which is also cost-effective, easy to prepare, as it is hidden all these days its efficacy was not discussed so here an attempt has been made to address the critical review of Hridayarnava rasa. Keywords: Hridayarnava rasa, Cardiovascular diseases, Hridroga.

Gamblers Anonymous: A critical review of the literature

2003 ◽  
Author(s):  
Peter Ferentzy ◽  
Wayne Skinner
Keyword(s):  
Critical Review ◽  
Large Scale ◽  
Mutual Aid ◽  
Review Of The Literature ◽  
Social Scientists ◽  
Beliefs And Practices ◽  
Collective Inquiry ◽  
Current State ◽  
Gamblers Anonymous ◽  
The Subject

This study surveys existing literature on Gamblers Anonymous (GA) and issues that help to contextualise our understanding of this mutual aid association. While GA has been the subject of investigation by social scientists, it is still understudied, with a notable shortage of research on issues facing women and ethnic minorities. A need exists for large-scale assessments of GA's effectiveness, more detailed accounts of GA beliefs and practices, increased knowledge of the ways in which GA attendance interacts with both formal treatment and attendance at other mutual aid organisations, and a better understanding of the profiles of gamblers best (and least) suited to GA, along with a clearer grasp of what GA was able to offer those gamblers that it seems to have helped. This assessment of the current state of knowledge underscores the embryonic state of our collective inquiry into the nature of GA, and the authors emphasise that significant advances have been made. Notably, important targets for study are being identified.

Psychosocial intervention in schizophrenia

2016 ◽  
Vol 33 (S1) ◽  
pp. S12-S12
Author(s):  
T. Wykes
Keyword(s):  
Large Scale ◽  
Cost Effective ◽  
Mental Health Recovery ◽  
Service Users ◽  
Intervention Programme ◽  
Course Of Action ◽  
Training And Supervision ◽  
Competing Interest ◽  
To Receive ◽  
Roll Out

Psychological treatments aimed at symptoms or behaviours that impede recovery now have a relatively strong database but it is not clear which treatments are more effective and when they should be applied. For large-scale roll out we need to consider which are the most helpful and cost-effective at which stage of the illness and to which individuals. This requires knowledge of how service users ascribe value to different outcomes and treatments as well as which individuals are likely to benefit the most from different treatments to produce a coherent mental health recovery programme. Tailoring treatment requires an understanding of adherence requirements as well as therapeutic interactions to explain how therapy fits with the service users’ personal goals. Not all information for making these clinical decisions is embedded in any database so the burden on research is to provide enough information to signal to health professionals the best course of action. More research on dissemination of treatment approaches as well as training and supervision requirements is needed in the form of dissemination science if patients with a diagnosis of schizophrenia are to receive the best intervention programme.Disclosure of interestThe author has not supplied his declaration of competing interest.

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