scholarly journals Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses

2021 ◽  
Vol 11 (5) ◽  
pp. 365
Author(s):  
Karen E. Wain ◽  
Kasia Tolwinski ◽  
Emily Palen ◽  
Alexis R. Heidlebaugh ◽  
Karahlyn Holdren ◽  
...  

Genomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults’ immediate responses to receiving NPD-related results to inform inclusion in population-based genomic screening programs. Nine recurrent, pathogenic copy number variants (CNVs) were identified from research exome data, clinically confirmed, and disclosed to adult participants of the Geisinger MyCode Community Health Initiative DiscovEHR cohort by experienced genetic counselors. A subset of in-person genetic counseling sessions (n = 27) were audio-recorded, transcribed, and coded using a grounded theory approach. Participant reactions were overwhelmingly positive and indicated that an NPD genetic etiology was highly valuable and personally useful. Participants frequently reported learning disabilities or other NPD that were not documented in their electronic health records and noted difficulties obtaining support for NPD needs. Most intended to share their genetic result with family members and health care providers and were interested in how their result could improve their healthcare. This study indicates that results from population-based NPD genomic screening can provide personal value for adults with NPD, were viewed positively by participants, and could improve clinical outcomes by informing symptom monitoring for NPD and co-morbidities, promoting improved health behaviors, and enhancing psychotherapeutic approaches.

Author(s):  
Jennifer M. Gittleman ◽  
Danielle M. Shpigel ◽  
Silvana Agterberg ◽  
Enmanuel Mercedes ◽  
Andrea H. Weinberger

Negative affect levels (NA) are associated with psychosocial stress and poor behaviors among individuals of Latinx and African heritage (Black) backgrounds. Little is known for potentially modifiable associates of these psychiatric disorders. However, there is a significant association between NA levels, psychosocial stress, and cigarette smoking - as an increase consequence of stress-related smoking. According to Díaz-García et al. (2020), modifiable research for NA indicates health care providers related psychosocial stressors clinical interventions, behaviors, family and work stress to reduce NA levels and improve outcomes for diverse patients. This study aims to establish research as the first NA examination for 95 adult participants diagnosed with psychosocial stress disorders. Additionally, the study will identify adult cigarette smoking among individuals of African heritage (Black) and Latinx background to identify behaviors of adults diagnosed with NA.  


2007 ◽  
Vol 22 (4) ◽  
pp. 140-146 ◽  
Author(s):  
Shannon McCready ◽  
Denise Reid

Student musicians frequently need to take breaks from playing their instruments because of physical playing-related injuries, yet little is known about their experiences with these occupational disruptions. We conducted a qualitative study that explored student musicians' lived experiences with unplanned disruptions stemming from engagement in their major occupation of playing an instrument. In-depth interviews with seven student musicians who attended either a special arts high school or a university were conducted. Consistent with a grounded theory approach to qualitative research, the constant comparative method of qualitative data analysis was implemented. A major finding related to the theme of “being and becoming,” where student musicians expressed a strong sense of belonging to a group of other like musicians who they learned from, relied on for support, and created music with. Another theme was motivation to excel, where students expressed a strong desire and motivation to improve and master their instrument. Occupational tensions and pressures emerged as another theme. Students were aware of the need to practice and the need to care for their bodies. A constant negotiation was required in which students struggled to find a good balance between the need to practice and to respect their bodies while maintaining an identity of a musician. These findings are discussed in relation to how health care providers and educators need to understand the demands and stresses associated with playing an instrument so that they can better support these young musicians.


2016 ◽  
Vol 8s2 ◽  
pp. BII.S40208
Author(s):  
Sripriya Rajamani ◽  
Aaron Bieringer ◽  
Stephanie Wallerius ◽  
Daniel Jensen ◽  
Tamara Winden ◽  
...  

Immunization information systems (IIS) are population-based and confidential computerized systems maintained by public health agencies containing individual data on immunizations from participating health care providers. IIS hold comprehensive vaccination histories given across providers and over time. An important aspect to IIS is the clinical decision support for immunizations (CDSi), consisting of vaccine forecasting algorithms to determine needed immunizations. The study objective was to analyze the CDSi presentation by IIS in Minnesota (Minnesota Immunization Information Connection [MIIC]) through direct access by IIS interface and by access through electronic health records (EHRs) to outline similarities and differences. The immunization data presented were similar across the three systems examined, but with varying ability to integrate data across MIIC and EHR, which impacts immunization data reconciliation. Study findings will lead to better understanding of immunization data display, clinical decision support, and user functionalities with the ultimate goal of promoting IIS CDSi to improve vaccination rates.


Author(s):  
Megan B. Sands ◽  
Dianne L. O’Connell ◽  
Michael Piza ◽  
Jane M. Ingham

Despite the advances of modern medicine, many illnesses continue to evade cure. Chronic, progressive, incurable illness is a major cause of disability, distress, suffering, and, ultimately, death. This is true for many causes of cancer, progressive neurological disorders, AIDS, and other disorders of vital organs. Progressive chronic diseases of this ilk are most common in late adulthood and old age, but they occur in all ages. When cure is not possible, as often it is not, the relief of suffering is the cardinal goal of medicine. The clinical imperative to relive suffering requires a nuanced understanding of the factors that contribute to suffering and the interaction between the distress of the patient, family members, and health-care providers. This chapter reviews those concepts and offers an approach to the evaluation of suffering for patients requiring palliative care.


2018 ◽  
Vol 25 ◽  
pp. 125 ◽  
Author(s):  
S.K.L. Chia

Early-stage hormone receptor–positive breast cancer is the most common subtype and stage presenting in countries with organized screening programs. Standard clinical and pathologic factors are routinely used to support prognosis and decisions about adjuvant therapies. Hormone receptor and her2 status are essential for decision-making about the use of adjuvant hormonal and anti-her2 therapies respectively. Genomic assays are now commercially available to aid in either further prognostication or in refining the potential benefit of adjuvant chemotherapy. The current genomic assays all generally quantify estrogen receptor and proliferation gene sets (among others) by rna expression, although the specific genes assayed are quite discordant. The present review focuses on the pivotal studies in which each assay attempted to demonstrate clinical utility, with an emphasis on prospective trial data for each assay, if available. Using genomic assays, health care providers will increasingly be able to individualize therapy or de-escalate therapy, optimizing clinic benefit while minimizing toxicities from systemic therapies.


Angiology ◽  
2019 ◽  
Vol 70 (5) ◽  
pp. 407-413 ◽  
Author(s):  
Muriel Sprynger ◽  
Michel Willems ◽  
Hendrik Van Damme ◽  
Benny Drieghe ◽  
J. C. Wautrecht ◽  
...  

In Europe, the prevalence of abdominal aortic aneurysms (AAAs) in the elderly population (≥65 year old) has declined in the past decades to <4%. Aneurysmal degeneration of the aorta is a serious and potentially life-threatening vascular disease. Abdominal aortic aneurysms typically develop subclinically and often only become symptomatic when complicated by impending rupture. Most AAAs are discovered incidentally while investigating for an unrelated pathology. Ruptured AAA is the tenth leading cause of death in Belgium (0.32% of all deaths in 2014). Health-care providers have emphasized the importance of early detection of AAA and elective repair when the rupture risk outweighs operative risk (usual diameter threshold of 55 mm). Routine AAA screening programs, consisting of a single abdominal ultrasonography at the age of 65 years, aim to reduce the number of AAA-related deaths. Does population-based ultrasound screening for AAA achieve its objective and is it cost-effective? This literature review tries to answer these challenging questions.


2018 ◽  
pp. 1-7 ◽  
Author(s):  
Roopa Hariprasad ◽  
Sanjeev Arora ◽  
Roshani Babu ◽  
Latha Sriram ◽  
Sarita Sardana ◽  
...  

Purpose Every year > 450,000 individuals are diagnosed with cancer and approximately 350,000 die of it in India. The Ministry of Health and Family Welfare has released an Operational Framework for the Management of Common Cancers that highlights population-based cancer screening programs in primary health care facilities by health care providers (HCPs) and capacity building of HCPs. The purpose of this study is to present a low-cost training model that is highly suitable for resource-deficient settings, such as those found in India, through Extension for Community Health Outcome (ECHO), a knowledge-sharing tool, to enable high-quality training of HCPs. Materials and Methods An in-person, 3-day training program was conducted for 27 HCPs in the tribal primary health care center of Gumballi in Karnataka, India, to teach the basics of cancer screening in oral, breast, and cervical cancer. The training of HCPs was done using the ECHO platform while they implemented the cancer screening, thus enabling them to build the much needed knowledge and skill set to conduct cancer screening in their respective communities. Results The knowledge level of the HCPs was tracked before the intervention, immediately after the 3-day training program, and 6 months after the ECHO intervention, which clearly showed progressive acquisition and retention of knowledge. A marked improvement in knowledge level score from an average of 6.3 to 13.7 on a 15-point scale was noticed after the initial in-person training. The average knowledge further increased to a score of 14.4 after 6 months as a result of training using the ECHO platform. Conclusion ECHO is an affordable and effective model to train HCPs in cancer screening in a resource-constrained setting.


2007 ◽  
Vol 2 (3) ◽  
pp. 208-210 ◽  
Author(s):  
Valery L. Feigin ◽  
Harry McNaughton ◽  
Lorna Dyall

Studying ethnic particularities of stroke epidemiology may not only provide a clue to the causes of the observed racial/ethnic differences in stroke mortality but is also important for appropriate, culturally specific health care planning, prevention in stroke and improved health outcomes. This overview of published population-based stroke incidence studies and other relevant research in the multi-ethnic New Zealand population demonstrates an obvious ethnic disparity in stroke in New Zealand, with the greatest and increasing burden of stroke being imposed on Maori, who are indigenous, and Pacific people, who have migrated and settled in this country. These data warrant urgent and effective measures to be undertaken by health policy makers and health care providers to reverse the unfavourable trends in stroke and improve Maori and Pacific people's health.


2018 ◽  
Author(s):  
Ann Scheck McAlearney ◽  
Cynthia J Sieck ◽  
Alice Gaughan ◽  
Naleef Fareed ◽  
Jaclyn Volney ◽  
...  

BACKGROUND Patient portals are a promising instrument to improve patient-centered care, as they provide patients information and tools that can help them better manage their health. The implementation of portals in both the inpatient and outpatient setting gives health care providers an opportunity to support patients both during hospitalization and after discharge. Thus, there is a need to better understand how inpatient and outpatient portals are used across care contexts. OBJECTIVE This study aimed to examine patients’ perceptions of using inpatient and outpatient portals across the care settings, including how they used the portals and the benefits and concerns associated with portal use. METHODS This study was conducted in a large Midwestern academic medical center consisting of seven hospitals. We interviewed 120 patients who had used an inpatient portal during their hospitalization, at 15 days and 6 months postdischarge, to determine their perspectives of portal use in both hospital and outpatient settings. Interview transcripts were analyzed inductively and deductively by using team coding processes consistent with a grounded theory approach. RESULTS Interviews focused on three main areas of portal use: experience with the portal features, perceived benefits, and concerns. Responses at 15 days (n=60) and 6 months (n=60) postdischarge were consistent with respect to perceptions about portal use. Patients identified viewing their health information, managing their schedule, and communicating with providers as notable activities. Convenience, access to information, and better engagement in care were indicated as benefits. Concerns were related to technology issues and privacy/security risks. CONCLUSIONS Implementation of inpatient portals as a complement to outpatient portals is increasing and can enable patients to better manage aspects of their care. Although care processes vary substantively across settings, the benefits of convenience, improved access to information, and better engagement in care provide opportunities for portal use across care settings to support patient-centered care.


2003 ◽  
Vol 12 (3) ◽  
pp. 50-52
Author(s):  
Mary Lou Montgomery

Psychiatric disorders occur at every life stage, including pregnancy. This resource column highlights several Web resources that may be useful to childbirth educators and other health care providers who may care for pregnant woman experiencing one of these conditions.


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