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The COVID-19 pandemic led healthcare organizations to pivot to telemedicine, precipitating the shift to telesupervision, defined as supervision over video-conferencing platforms and telephone, for genetic counseling students. This study aimed to (1) characterize the impact of the COVID-19 pandemic on genetic counseling supervision, (2) ascertain genetic counseling supervisor experiences with telesupervision, and (3) examine the association between years of genetic counseling experience and preferences related to supervision modality. Certified genetic counselors were recruited through the National Society of Genetic Counselors (NSGC), Pennsylvania Association of Genetic Counselors (PAGC), and Association of Genetic Counseling Program Directors (AGCPD) listservs and by purposive sampling via emails to Genetic Counseling Program Directors in program-rich regions. An investigator-created survey was administered online to elicit descriptions of supervision during the pandemic, including modifications to rotations, changes to the number of students supervised, and mode of supervision preference. The survey was completed by 122 genetic counselors. The 54-question survey included multiple-choice, ranking, and open-ended questions. The majority (95.9%) of the participants were female, with an average age of 32 years. Most (86%) of participants reported changes in their supervision practices due to COVID-19, including sole use of telesupervision (54.4%), decreases in rotation lengths (25.4%), and delays in rotation start dates (24.6%). Interestingly, 19.3% (22/114) supervised more students than before the pandemic, and 18.4% (21/114) of participants supervised fewer students. Approximately two thirds (67.5%) of supervisors preferred supervising students in-person, while 2.6% preferred telesupervision, and 29.8% had no preference. Those who preferred to supervise in-person had fewer years of experience than those who had no preference (median = 4 years vs. median = 7 years respectively, Wilcoxonp-value = 0.0418, effect size rpb = 0.19, small). Given the persistence of telemedicine beyond the pandemic, telesupervision may be necessary to train genetic counseling students. However, additional research is needed to determine the effectiveness of telesupervision in facilitating student skill development and attainment of the Accreditation Council for Genetic Counseling (ACGC) Practice-Based Competencies (PBCs).
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BACKGROUND: The aim was to assess health care providers' (HCPs) visual attention (VA) by using eye-tracking glasses during a simulated neonatal intubation. METHODS: HCPs from three pediatric and neonatal departments (Feldkirch and Vienna, Austria, and Edmonton, Canada) completed a simulated neonatal intubation scenario while wearing eye-tracking glasses (Tobii Pro Glasses 2®, Tobii, Stockholm, Sweden) to record their VA. Main outcomes included duration of intubation, success rate, and VA. We further compared orotracheal and nasotracheal intubations. RESULTS: 30 participants were included. 50% completed the intubation within 30 s (M = 35.40, SD = 16.01). Mostly nasotracheal intubations exceeded the limit. Experience was an important factor in reducing intubation time. VA differed between more and less experienced HCPs as well as between orotracheal and nasotracheal intubations. Participants also focused on different areas of interest (AOIs) depending on the intubator's experience. More experience was associated with a higher situational awareness (SA) and fewer distractions, which, however, did not transfer to significantly better intubation performance. CONCLUSION: Half of the intubations exceeded the recommended time limit. Differences in intubation duration depending on type of intubation were revealed. VA differed between HCPs with different levels of experience and depended on duration and type of intubation. IMPACT: Simulated neonatal intubation duration differs between orotracheal and nasotracheal intubation. Visual attention during simulated neonatal intubation shows differences depending on intubation duration, intubator experience, type of intubation, and level of distraction. Intubator experience is a vital parameter for reducing intubation duration and improving intubator focus on task-relevant stimuli.
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Tecnologia de Rastreamento Ocular , Intubação Intratraqueal , Recém-Nascido , Humanos , Criança , Estudos Prospectivos , Pessoal de Saúde , Fatores de TempoRESUMO
OBJECTIVES: Moving an ICU to a new location is a challenge. The objective of this study was to use in situ simulation to identify potential problems and solutions with the new environment before commencing patient care. DESIGN: Planned, observational video-recorded simulation study using four scenarios: delivery room management of term-neonate; delivery room management of extremely low-birth-weight infant; management and transfer of an infant with respiratory syncytial virus bronchiolitis and apnea; and management and transfer of an adolescent with septic shock. SETTING: Academic tertiary neonatal and combined neonatal ICU/PICU. PARTICIPANTS: Sixteen volunteers (eight physicians, eight nurses). INTERVENTIONS: Standardized briefing introduction, with before versus after survey of thoughts about each scenario, and after 8 weeks, debriefing at least 60 minutes and additional video recording. MEASUREMENTS AND MAIN RESULTS: A total of 91 potential problem areas were identified and included issues related to technical aspects ( n = 29), infrastructure ( n = 27), administration ( n = 19), and structure ( n = 16). Fifty-three (58%) of these potential issues could be resolved before the move, including: 15 of 29 technical, 15 of 27 infrastructure, nine of 19 administration, and 14 of 16 structural. The video analysis revealed an additional 13 problem areas (six technical, three infrastructure, two administration, and two structural). Participants felt more confident 8 weeks after the simulations (χ 2 = 12.125; p < 0.002). All 16 participants confirmed the usefulness of the in situ simulation, the majority wanted further introductions to the new ward ( n = 13) and noted a positive impact of the changes on the new ward ( n = 12). CONCLUSIONS: In situ simulation before moving into a new facility identifies numerousness potential problem areas. Survey shows that providers feel better prepared and are more confident. Video recording reveals additional difficulties not addressed in conventional verbal debriefing.
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Terapia Intensiva Neonatal , Médicos , Recém-Nascido , Lactente , Humanos , Criança , Adolescente , Unidades de Terapia Intensiva NeonatalRESUMO
The genetic counseling profession has attempted to enhance the diversity of its workforce since its inception but does not yet reflect the demographics of the United States. One barrier to entry into genetic counseling programs may be the ability to gain exposure to the profession prior to applying for entry. Many applicants participate in unpaid shadowing experiences, which could be a limitation to students from underrepresented backgrounds who may be less familiar with the field or who cannot forgo a salary. To address this concern, the University of Pennsylvania Master of Science in Genetic Counseling Program developed a six-week, paid summer internship designed for undergraduates interested in genetic counseling and from underrepresented backgrounds in the field. Students were recruited via social media and word of mouth. Three undergraduates participated in the first year and four in the second year. Participants received lectures on basic topics in genetics and medical genetics, engaged in workshops and panel discussions, attended rounds and case conferences, interacted with genetic counseling mentors, and were able to shadow genetic counselors in the clinic. Benefits to the interns included enhanced appreciation for the field, development of connections with practicing genetic counselors, and development of connections with each other. The program received positive and constructive feedback and has been continued for future summers.
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Aconselhamento Genético , Internato e Residência , Humanos , Estados Unidos , Estudantes/psicologia , Recursos Humanos , Salários e BenefíciosRESUMO
As the provision of telehealth genetic counseling (THGC) services continues to expand, it is imperative that genetic counseling students gain proficiency in telehealth service delivery. To prepare students to provide THGC services, the MSGC program at the University of Pennsylvania has included didactic sessions on THGC, THGC role plays, THGC standardized patient sessions, and THGC fieldwork experiences and clinical rotations. This article highlights best practices in THGC and guidance for Master of Science in Genetic Counseling (MSGC) programs training the next generation of genetic counselors providing THGC services.
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Conselheiros , Telemedicina , Humanos , Aconselhamento Genético , Currículo , EscolaridadeRESUMO
BACKGROUND: The aim of this study was to investigate the effect of feedback devices on visual attention and the quality of pediatric resuscitation. METHODS: This was a randomized cross-over simulation study at the Medical University of Vienna. Participants were students and neonatal providers performing four resuscitation scenarios with the support of feedback devices randomized. The primary outcome was the quality of resuscitation. Secondary outcomes were total dwell time (=total duration of visit time) on areas of interest and the workload of participants. RESULTS: Forty participants were analyzed. Overall, chest compression (P < 0.001) and ventilation quality were significantly better (P = 0.002) when using a feedback device. Dwell time on the feedback device was 40.1% in the ventilation feedback condition and 48.7% in the chest compression feedback condition. In both conditions, participants significantly reduced attention from the infant's chest and mask (72.9 vs. 32.6% and 21.9 vs. 12.7%). Participants' subjective workload increased by 3.5% (P = 0.018) and 8% (P < 0.001) when provided with feedback during a 3-min chest compression and ventilation scenario, respectively. CONCLUSIONS: The quality of pediatric resuscitation significantly improved when using real-time feedback. However, attention shifted from the manikin and other equipment to the feedback device and subjective workload increased, respectively. IMPACT: Cardiopulmonary resuscitation with feedback devices results in a higher quality of resuscitation and has the potential to lead to a better outcome for patients. Feedback devices consume attention from resuscitation providers. Feedback devices were associated with a shift of visual attention to the feedback devices and an increased workload of participants. Increased workload for providers and benefits for resuscitation quality need to be balanced for the best effect.
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Reanimação Cardiopulmonar , Parada Cardíaca , Reanimação Cardiopulmonar/métodos , Criança , Retroalimentação , Humanos , Lactente , Recém-Nascido , Manequins , PressãoRESUMO
The COVID-19 pandemic has pushed medical providers to trial telemedicine on a scale that lacks precedent. In genetic medicine, nearly overnight genetics providers were asked to transition to telemedicine platforms, irrespective of their previous experience with these modalities. This push to telegenetics prompted a reappraisal of the practice, as genetics providers learned firsthand about the feasibility, benefits, and drawbacks of telegenetics and telesupervision, all of which raise questions about the potential incorporation of these platforms beyond the pandemic. Adding to nascent literature on the transition to telegenetics amidst the COVID-19 pandemic, we aimed to evaluate provider experiences and preferences with respect to telegenetics through qualitative semi-structured interviews with genetics providers. Nineteen providers from seven institutions participated in a semi-structured interview focused on the rapid shift to telegenetics, the benefits and drawbacks of the practice, experiences supervising students on virtual platforms, and providers' preferences. We employed a qualitative methodology so that providers working across diverse subspecialties could expand upon previously reported benefits and drawbacks. Qualitative data revealed the nuanced benefits of telegenetics which included overcoming geographic, spatial, and temporal barriers to care as well as greater involvement of patients' family members in sessions. In addition, the data indicated drawbacks related to additional tasks such as completing paperwork electronically and facilitating the collection of specimens from patients' homes. Interviews with providers from different subspecialties revealed how telegenetics may be uniquely useful for particular subspecialties, patient populations, or clinics for whom the aforementioned barriers are more significant. Providers reported that telesupervision made the provision of feedback to students more cumbersome and identified a number of methods for enriching the telesupervision experience. In keeping with previous research, most genetics providers appraised telegenetics as a valuable addition to patient care (68%, N = 13) and hoped to offer it as an option beyond the pandemic (63%, N = 12).
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COVID-19 , Aconselhamento Genético , Curva de Aprendizado , Telemedicina , Adulto , COVID-19/epidemiologia , Feminino , Humanos , Masculino , Pandemias , Adulto JovemRESUMO
Standardized patients (SPs) are laypersons trained to portray patients, family members, and others in a consistent, measurable manner to teach and assess healthcare students, and to provide practice for emotionally and medically challenging cases. SP methodology has been studied with practicing genetic counselors; however, there is minimal empirical evidence characterizing its use in genetic counseling (GC) education. The Accreditation Council for Genetic Counseling (ACGC) Standards of Accreditation for Graduate Programs in Genetic Counseling include SP sessions as one way to achieve up to 20% of the 50 participatory cases required for graduation. The purpose of the current project was to determine the scope, frequency, and timing of SP methodology in ACGC-accredited programs to establish baseline usage, which happened prior to the SARS-CoV-2 pandemic. A 40-item investigator-created survey was developed to document the scope and frequency of SP use among programs. The survey was distributed through the Association of Genetic Counseling Program Directors' (AGCPD) listserv to 43 accredited and 6 programs under development. Surveys were analyzed from 25 accredited programs (response rate = 58%). Seventeen of these programs report inclusion of SP methodology in the curricula (68%), of which 13 report working with an established SP program. SPs are used predominantly for role-plays (70.6%), individualized instruction and remediation (29.4%), and for other reasons such as lecture demonstration, final examinations, practicing skills, and assessing students' goals. Sixteen of the participating programs use SPs to give GC students experience disclosing positive test results. Other details vary among the GC programs including the use of trained SPs, volunteer or paid SPs, actors with and without SP training, or GC students acting as patients. This study demonstrates that GC program SP experiences differ, but are largely viewed as valuable by the programs. Many GC programs report using SP encounters to create multiple opportunities for students to practice and refine clinical skills similar to SPs in medical school.
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Currículo , Educação de Pós-Graduação/organização & administração , Aconselhamento Genético , Simulação de Paciente , Acreditação , COVID-19 , Competência Clínica , Aconselhamento , Educação de Pós-Graduação/normas , Humanos , SARS-CoV-2 , Inquéritos e QuestionáriosRESUMO
Medical students and educators recognize that preparing the next generation of health leaders to address seemingly intractable problems like health disparities should include advocacy training. Opportunities to acquire the knowledge and skills needed to effectively advocate at the policy level to promote systems-, community-, and population-level solutions are a critical component of such training. But formal advocacy training programs that develop and measure such skills are scarce. Even less common are interprofessional advocacy training programs that include legal and policy experts to help medical students learn such skills. This 2016-2017 pilot study started with a legislative advocacy training program for preclinical medical students that was designed to prepare them to meet with Capitol Hill representatives about a health justice issue. The pilot assessed the impact of adding an interprofessional education (IPE) dimension to the program, which in this case involved engaging law faculty and students to help the medical students understand and navigate the federal legislative process and prepare for their meetings. Results from the pilot suggest that adding law and policy experts to advocacy-focused training programs can improve medical students' advocacy knowledge and skills and increase their professional identity as advocates.
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Educação de Graduação em Medicina/métodos , Política de Saúde/legislação & jurisprudência , Educação Interprofissional/métodos , Colaboração Intersetorial , Defesa do Paciente/educação , Ativismo Político , Estudantes de Medicina , District of Columbia , Humanos , Advogados/educação , Projetos PilotoRESUMO
Jo, E, Fischer, M, Auslander, AT, Beigarten, A, Daggy, B, Hansen, K, Kessler, L, Osmond, A, Wang, H, and Wes, R. The effects of multiday vs. single pre-exercise nitrate supplement dosing on simulated cycling time trial performance and skeletal muscle oxygenation. J Strength Cond Res 33(1): 217-224, 2019-A transient augmentation in the metabolic efficiency of skeletal muscle is the purported basis for dietary nitrate supplementation amongst competitive and recreational athletes alike. Previous studies support the ergogenic effects of nitrate supplementation, as findings indicated improved microvascular blood flow, exercise economy, and performance with relatively short-term supplementation. As with most ergogenic aids, the optimum duration of supplementation before performance or competition, i.e., loading phase, is a critical determinant for efficacy. Therefore, the purpose of this study was to investigate the effects of long-term vs. single dosing nitrate supplementation on skeletal muscle oxygenation and cycling performance. In a randomized, placebo controlled, double blind, parallel design study, healthy, recreationally active men (n = 15) and women (n = 14) subjects (age = 18-29 years) completed an 8 km (5 mi) simulated cycling time trial before and after a 14-day supplementation period with either a nitrate supplement (Multi-Day Dosing Group) (n = 14) or placebo (Single Pre-Exercise Dosing Group; SD) (n = 15). Both groups consumed a single dose of the nitrate supplement 2 hours before the post-treatment time trial. In addition, skeletal muscle oxygenation was measured via near-infrared spectroscopy during each time trial. Multiday nitrate supplementation significantly decreased time to completion (p = 0.01) and increased average power (p = 0.04) and speed (p = 0.02) from pre-to post-treatment, while a single dosing produced no significant changes to these measures. There were no significant differences over time and across treatments for any other measures including muscle oxygenation variables. Overall, long-term nitrate supplementation appears to have an advantage over a single pre-exercise dosing on cycling performance and metabolic efficiency as indicated by an increase in power output with no change in oxygenation.
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Desempenho Atlético , Ciclismo , Suplementos Nutricionais , Nitratos/administração & dosagem , Substâncias para Melhoria do Desempenho/administração & dosagem , Fenômenos Fisiológicos da Nutrição Esportiva , Adolescente , Adulto , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Músculo Esquelético/fisiologia , Oxigênio/análise , Espectroscopia de Luz Próxima ao Infravermelho , Adulto JovemRESUMO
Many medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual's health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L., & Bennett 2009). Many clinicians continue to construct pedigrees using pen and paper method despite findings of improved identification of at risk patients with similar electronic intake tools (Arar et al. in Personalized Medicine 2011 8:523-32). The goal of this study was to explore the patient and practitioner experience with electronic pedigree programs using Proband, an application developed at The Children's Hospital of Philadelphia for genetic counselors to construct pedigrees during genetic counseling sessions directly on iPads. The first part of this study looked at the patient experience and assessed time to take the pedigree and the impact of using an electronic pedigree tool on the relationship between participant and genetic counselor. This involved 50 participants and was compared with the traditional paper method of taking a pedigree. There was no statistical significance found between the two different mediums in accuracy, speed, and rapport with provider. The second part of the study assessed the usability of Proband by ten genetic counselors. Overall, the application received a system usability score of 90/100 with a majority (7/10) of counselors agreeing that they would use this application in their clinic. The positive outcome of this study encourages future work to assess the impact and usability of programs on a larger scale as they continue to integrate into current electronic health records.
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Registros Eletrônicos de Saúde/organização & administração , Microcomputadores , Linhagem , Adolescente , Adulto , Feminino , Aconselhamento Genético , Humanos , Masculino , Pessoa de Meia-Idade , Philadelphia , Adulto JovemRESUMO
The dry biomes of southern Africa (Desert, Nama Karoo and Succulent Karoo) are home to a rich and diverse xerophytic flora. This flora includes two morphologically diverse clades of Zygophyllaceae, Tetraena and Roepera (Zygophylloideae), which inhabit some of the most arid habitats in the region. Using a plastid phylogeny of Zygophylloideae we assess whether the evolution of putatively adaptive traits (leaf shape, vasculature, mode of water storage and photosynthetic type: C3 versus C4) coincides with the successful colonisation of environments with different drought regimes within southern Africa. Our results show general niche conservatism within arid habitats in Tetraena, but niche shifts from arid to more mesic biomes with longer and/or cooler growing season (Fynbos and Thicket) in Roepera. However, these distinct broad-scale biogeographical patterns are not reflected in leaf anatomy, which seems to vary at more local scales. We observed considerable variability and multiple convergences to similar leaf anatomies in both genera, including shifts between "all cell succulence" leaf types and leaf types with distinct chlorenchyma and hydrenchyma. Our survey of C4 photosynthesis in the Zygophylloideae showed that the C4 pathway is restricted to Tetraena simplex, which also having an annual life history and a widespread distribution, is rather atypical for this group.
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Evolução Biológica , Clima Desértico , Ecossistema , Folhas de Planta/anatomia & histologia , Zygophyllaceae/anatomia & histologia , Zygophyllaceae/classificação , África Austral , Secas , Fenótipo , Fotossíntese , Filogenia , Filogeografia , Plastídeos/genética , Zygophyllaceae/genéticaRESUMO
Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group's Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.
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Neoplasias da Mama/genética , Aconselhamento Genético/métodos , Guias como Assunto , Neoplasias da Mama/diagnóstico , Feminino , Humanos , Masculino , LinhagemRESUMO
Purpose: With few exceptions, research on consumer genetic testing for hereditary cancer risk has focused on tests with limited predictive value and clinical utility. Our study advances the existing literature by exploring the experiences and behaviors of individuals who have taken modern consumer genetic tests for cancer susceptibility that, unlike earlier tests, screen for medically significant variants. Methods: We interviewed 30 individuals who had undergone consumer genetic testing for hereditary cancer risk between 2014 and 2019. We explored participants' pre-test sentiments (7 items), experiences receiving results (5 items), behavioral and health-related changes (6 items), and attitudes and beliefs (3 items). Data were analyzed for thematic content. Results: Most participants reported a personal (n = 6) and/or family history (n = 24) of cancer, which influenced their choice to pursue testing. Before testing, most participants did not consult with a physician (n = 25) or receive genetic counseling (n = 23). Nevertheless, the majority felt that they understood test-related information (n = 20) and their results (n = 20), though a considerable number reported experiencing negative emotions related to their results. Most also shared their results with family members (n = 27). Overall, participants' attitudes towards consumer genetic testing for cancer risk were predominantly positive (n = 23). Conclusion: This study offers new insights into how individuals use and perceive modern consumer genetic tests for hereditary cancer risk, focusing on their perceptions of the risks, benefits, and limitations of these services. Understanding test-takers' perspectives can potentially inform improvements aimed at ensuring that tests meet users' needs and deliver clinically valuable genetic risk assessments.
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The Georgetown University's Cancer Legal Assistance and Well-being Project launched in 2020 as a medical-legal partnership that works with health care providers at a Washington, D.C. safety-net hospital to treat the health-harming legal needs of historically and intentionally marginalized patients with cancer.
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Neoplasias , Humanos , Neoplasias/terapia , District of Columbia , Provedores de Redes de Segurança/organização & administração , Comportamento CooperativoRESUMO
BACKGROUND: Violent injury among trauma surgery patients is strongly associated with exposure to harmful social determinants of health and negative long-term health outcomes. Medical-legal partnerships in other settings successfully provide patients with legal services to address similar health-harming legal needs and may offer a promising model for the care of violently injured patients. STUDY DESIGN: An electronic survey tool was distributed to clinicians and staff affiliated with the hospital-based violence intervention program at a single urban level one trauma center. Semistructured follow-up interviews were conducted with participants, and interviews were coded using thematic analysis and grounded theory. RESULTS: Participants reported many health-harming legal needs among their violently injured patients. The most commonly identified needs were: health insurance denials (62.5%); difficulty accessing crime victims compensation funds (56.3%); trouble accessing official documents (50%); and problems with non-SSDI public benefits (50%). Participants reported inconsistent methods for learning about and responding to patients' health-harming legal needs. The most common barriers to addressing these needs included the following: lack of awareness that a lawyer could help with the issue (68.8%); prioritization of other needs (68.8%); previous negative legal experiences (62.5%); and cost (62.5%). Identified needs encompass issues traditionally addressed by MLPs as well as more novel challenges faced by violent injury survivors. CONCLUSION: This survey and interview-based study identifies complex health-harming legal needs present among violently injured trauma surgery patients. Medical-legal partnerships specially designed for the setting of violent injury appear well-suited to meet these needs, potentially reducing risk of violent reinjury, long-term negative health outcomes, and health care system costs. LEVEL OF EVIDENCE: Prognostic and Epidemiological; Level IV.
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Avaliação das Necessidades , Violência , Humanos , Masculino , Feminino , Violência/prevenção & controle , Adulto , Centros de Traumatologia , Inquéritos e Questionários , Entrevistas como Assunto , Ferimentos e Lesões/terapia , Pessoa de Meia-Idade , Serviços JurídicosRESUMO
OBJECTIVE: The theory of social practice describes a therapeutic community process for people living with serious mental illness, while the methods involve engaging people to become collaborators and contributors to a social environment. Confusion in the mental health field surrounding the applied methods of social practice-as occurring within the clubhouse model-has not been sufficiently addressed. This article aims to outline the methodology of social practice, as well as provide guidance on its practical application. METHODS: Specific constructs of social practice are defined, and empirical support is provided to emphasize how practices to support recovery are applied in the clubhouse. RESULTS: Five key elements of social practice-that is, transformational social design, engagement, relationship development, natural feedback and intervention, and transitional environments-are described. Practical examples of therapeutic techniques associated with each element are also provided. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: Social practice addresses the social determinants of health by focusing on five key elements that support individual and community recovery. Here, we detail social practice techniques utilized in the clubhouse as a way of unifying theory, providing practical guidance to mental health professionals and improving the measurement of community as therapy for serious mental illness. (PsycInfo Database Record (c) 2024 APA, all rights reserved).
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BACKGROUND: Germline heterozygous TP53 pathogenic variants (PVs) cause Li Fraumeni Syndrome (LFS, OMIM#151623). TP53 PVs at lower-than-expected variant allele frequencies (VAF) may reflect postzygotic mosaicism (PZM) or clonal hematopoiesis (CH); however, no guidelines exist for workup and clinical management. PATIENTS AND METHODS: Retrospective analysis of probands who presented to an academic cancer genetics program with a TP53 PV result on germline genetic testing. RESULTS: Twenty-one of 125 unrelated probands (17 %) were found to harbor a TP53 PV with VAF<30 % or a designation of "mosaic". A diagnosis of PZM was made in nine (43 %) due to a clinical phenotype consistent with LFS with (n = 8) or without (n = 1) positive ancillary tissue testing. Twelve patients (57 %) were diagnosed with presumed CH (pCH) due to a diagnosis of a myeloproliferative neoplasm, negative ancillary tissue testing, clinical phenotype not meeting LFS criteria, no cancer, and/or no first cancer age<50. Of the 19 patients with biological offspring, nine had either partial or complete offspring testing, all negative. CONCLUSIONS: Determining the etiology of low VAF TP53 PVs requires ancillary tissue testing and incorporation of clinical phenotype. Discerning PZM versus CH is important to provide optimal care and follow-up.
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Testes Genéticos , Mutação em Linhagem Germinativa , Síndrome de Li-Fraumeni , Mosaicismo , Proteína Supressora de Tumor p53 , Humanos , Testes Genéticos/métodos , Proteína Supressora de Tumor p53/genética , Feminino , Masculino , Síndrome de Li-Fraumeni/genética , Estudos Retrospectivos , Adulto , Pessoa de Meia-Idade , Adulto Jovem , AdolescenteRESUMO
Young Black women are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations. In a sample of Black women with early onset breast cancer, we evaluated BRCA mutations and explored personal and system-level clinical characteristics. Black women diagnosed with invasive breast cancer (age ≤50) were recruited through the state cancer registry. Participants completed a questionnaire, genetic counseling and BRCA testing. Of the 48 women who consented to study participation, 46 provided a usable biologic specimen for BRCA testing. The overall prevalence of BRCA mutations and variants of uncertain significance (VUS) in participants was 6.5% and 34.8%, respectively. Of these, only 14 were referred for genetic counseling prior to study enrollment. Overall, those participants who chose to undergo bilateral mastectomy had a higher number of relatives with breast and ovarian cancer (p = 0.024) and a higher household income (p = 0.009). BRCA mutation prevalence and the high prevalence of VUS in participants are consistent with prior studies. Furthermore, clinical factors such as family history and financial means may influence type of surgery recommended and chosen, at both the provider and patient level, respectively. Finally, the limited number of patients referred for genetic counseling prior to surgical treatment for breast cancer may represent a missed clinical opportunity to inform surgical decisions.