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1.
J Genet Couns ; 33(1): 118-123, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38351603

RESUMEN

Educational use of clinical simulation is a way for students to immerse themselves within a realistic yet safe and structured environment as they practice clinical skills. It is widely used in healthcare training and evaluation, and there are best practices for design, implementation, debriefing, and assessment. An increasing number of genetic counseling graduate programs use simulation in various ways, ranging from role-plays to working with professional simulated/standardized patient (SP) actors. At this time, there is very little consistency across programs, research on the approaches, and standards by which simulation is incorporated into training. Simulation is an understudied but promising approach for genetic counselor (GC) education and assessment. After graduation, GCs demonstrate their competence as entry-level providers through American Board of Genetic Counseling (ABGC) multiple-choice examination (MCE), along with their participatory clinical encounters from graduate training. Data from genetic counseling and other professions highlight the limitations and biases of MCEs, suggesting they not only fail to accurately capture competency, but also that they disadvantage underrepresented individuals from entering the field. In addition, MCEs are limited as a tool for assessing nuanced counseling and communication skills, as compared to more quantitative scientific knowledge. We propose that innovative, evidence-based approaches such as simulation have the potential to not only enhance learning, but also to allow GCs to better demonstrate competency during training and in relation to the board examination. Collaborative approaches, research, and funding are needed to further explore the viability of routinely incorporating simulation into GC training and assessment.


Asunto(s)
Asesoramiento Genético , Pruebas Genéticas , Humanos , Escolaridad , Aprendizaje , Estudiantes
2.
Contemp Clin Trials ; 132: 107309, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37516165

RESUMEN

BACKGROUND: A central challenge to precision medicine research efforts is the return of genetic research results in a manner that is effective, ethical, and efficient. Formal tests of alternate modalities are needed, particularly for racially marginalized populations that have historically been underserved in this context. METHODS: We are conducting a randomized controlled trial (RCT) to test scalable modalities for results return and to examine the clinical utility of returning genetic research results to a research cohort of Black women. The primary aim is to compare the efficacy of two communication modalities for results return: 1) a conventional modality that entails telephone disclosure by a Board-certified genetic counselor, and 2) an online self-guided modality that entails results return directly to participants, with optional genetic counselor follow-up via telephone. The trial is being conducted among participants in the Black Women's Health Study (BWHS), where targeted sequencing of 4000 participants was previously completed. RESULTS: Several ethical, legal, and social implications (ELSI) and challenges presented, which necessitated substantial revision of the original study protocol. Challenges included chain of custody, re-testing of research results in a CLIA lab, exclusion of VUS results, and digital literacy. Bioethical principles of autonomy, justice, non-maleficence, and beneficence were considered in the design of the study protocol. CONCLUSION: This study is uniquely situated to provide critical evidence on the effectiveness of alternative models for genetic results return and provide further insight into the factors influencing access and uptake of genetic information among U.S. Black women. CLINICALTRIALS: gov: NCT04407611.


Asunto(s)
Pruebas Genéticas , Neoplasias , Femenino , Humanos , Neoplasias/genética , Revelación , Comunicación , Investigación Genética
3.
BMC Health Serv Res ; 23(1): 195, 2023 Feb 24.
Artículo en Inglés | MEDLINE | ID: mdl-36823599

RESUMEN

BACKGROUND: Recent research, which explored the use of Quality Improvement (QI) methods in the Covid-19 pandemic response, found that Quality Improvement principles were utilised during the crisis management period, albeit without direct intention. Following on from this work, the aim of this paper extends that study by investigating the sustainability and resilience of not only the changes implemented by healthcare staff during Covid-19 in Ireland, but the resilience of the wellbeing of healthcare staff themselves through the various waves of Covid-19. METHODS: To explore healthcare staffs experience of Quality Improvement and the sustainability and resilience of both Quality Improvement initiatives and healthcare staff, a qualitative design was implemented. Semi-structured interviews took place online over Zoom with 11 healthcare staff members from the Irish healthcare service in the Spring of 2022. An analysis of the narratives was conducted using thematic analysis supported by NVivo12. RESULTS: Four key themes were evident from the data: (i) From fear to exhaustion; (ii) maintaining person-centred approaches to care; (iii) Covid-19 as a medium for change, and; (iv) staff resilience and appetite for Quality Improvement. DISCUSSION: The results of this work identified three key learnings; (i) integrating learning into policies and practice: (ii) the role of collective leadership and devolving/sharing power; and (iii) key drivers/factors that promote sustainability of QI interventions. Despite the challenges in recruitment of research participants experienced during the pandemic, a narrative approach supported the collation of rich and nuanced insights into the experiences of healthcare staff during this time. CONCLUSION: A growing body of literature currently exists on how healthcare staff felt during the Covid-19 pandemic. However, as the waves of Covid-19 have declined, it is vital to examine how the feelings of burnout and disillusionment will affect engagement with Quality Improvement in the future. It is also worth noting and examining the feeling of purpose and pride participants expressed from working through the Covid-19 pandemic. This study has helped to address this gap.


Asunto(s)
COVID-19 , Humanos , COVID-19/epidemiología , Pandemias , Mejoramiento de la Calidad , Instituciones de Salud , Atención a la Salud
4.
BMJ Open Qual ; 10(3)2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34341016

RESUMEN

OBJECTIVES: To profile the aims and characteristics of quality improvement (QI) initiatives conducted in Ireland, to review the quality of their reporting and to assess outcomes and costs. DESIGN: Scoping review. DATA SOURCES: Systematic searches were conducted in PubMed, Web of Science, Embase, Google Scholar, Lenus and rian.ie. Two researchers independently screened abstracts (n=379) and separately reviewed 43 studies identified for inclusion using a 70-item critique tool. The tool was based on the Quality Improvement Minimum Quality Criteria Set (QI-MQCS), an appraisal instrument for QI intervention publications, and health economics reporting criteria. After reaching consensus, the final dataset was analysed using descriptive statistics. To support interpretations, findings were presented at a national stakeholder workshop. ELIGIBILITY CRITERIA: QI studies implemented and evaluated in Ireland and published between January 2015 and April 2020. RESULTS: The 43 studies represented various QI interventions. Most studies were peer-reviewed publications (n=37), conducted in hospitals (n=38). Studies mainly aimed to improve the 'effectiveness' (65%), 'efficiency' (53%), 'timeliness' (47%) and 'safety' (44%) of care. Fewer aimed to improve 'patient-centredness' (30%), 'value for money' (23%) or 'staff well-being' (9%). No study aimed to increase 'equity'. Seventy per cent of studies described 14 of 16 QI-MQCS dimensions. Least often studies reported the 'penetration/reach' of an initiative and only 35% reported health outcomes. While 53% of studies expressed awareness of costs, only eight provided at least one quantifiable figure for costs or savings. No studies assessed the cost-effectiveness of the QI. CONCLUSION: Irish QI studies included in our review demonstrate varied aims and high reporting standards. Strategies are needed to support greater stimulation and dissemination of QI beyond the hospital sector and awareness of equity issues as QI work. Systematic measurement and reporting of costs and outcomes can be facilitated by integrating principles of health economics in QI education and guidelines.


Asunto(s)
Atención a la Salud , Mejoramiento de la Calidad , Costos y Análisis de Costo , Humanos , Irlanda
5.
J Health Organ Manag ; ahead-of-print(ahead-of-print)2021 Aug 24.
Artículo en Inglés | MEDLINE | ID: mdl-34423926

RESUMEN

PURPOSE: The paper examines interviewee insights into accountability for clinical governance in high-consequence, life-and-death hospital settings. The analysis draws on the distinction between formal "imposed accountability" and front-line "felt accountability". From these insights, the paper introduces an emergent concept, "grounded accountability". DESIGN/METHODOLOGY/APPROACH: Interviews are conducted with 41 clinicians, managers and governors in two large academic hospitals. The authors ask interviewees to recall a critical clinical incident as a focus for elucidating their experiences of and observation on the practice of accountability. FINDINGS: Accountability emerges from the front-line, on-the-ground. Together, clinicians, managers and governors co-construct accountability. Less attention is paid to cost, blame, legal processes or personal reputation. Money and other accountability assumptions in business do not always apply in a hospital setting. ORIGINALITY/VALUE: The authors propose the concept of co-constructed "grounded accountability" comprising interrelationships between the concept's three constituent themes of front-line staff's felt accountability, along with grounded engagement by managers/governors, supported by a culture of openness.


Asunto(s)
Atención a la Salud , Responsabilidad Social , Gestión Clínica , Instituciones de Salud , Humanos , Organizaciones
6.
J Health Organ Manag ; ahead-of-print(ahead-of-print)2020 Dec 18.
Artículo en Inglés | MEDLINE | ID: mdl-33331736

RESUMEN

PURPOSE: While clinical governance is assumed to be part of organisational structures and policies, implementation of clinical governance in practice (the praxis) can be markedly different. This paper draws on insights from hospital clinicians, managers and governors on how they interpret the term "clinical governance". The influence of best-practice and roles and responsibilities on their interpretations is considered. DESIGN/METHODOLOGY/APPROACH: The research is based on 40 in-depth, semi-structured interviews with hospital clinicians, managers and governors from two large academic hospitals in Ireland. The analytical lens for the research is practice theory. Interview transcripts are analysed for practitioners' spoken keywords/terms to explore how practitioners interpret the term "clinical governance". The practice of clinical governance is mapped to front line, management and governance roles and responsibilities. FINDINGS: The research finds that interpretation of clinical governance in praxis is quite different from best-practice definitions. Practitioner roles and responsibilities held influence practitioners' interpretation. ORIGINALITY/VALUE: The research examines interpretations of clinical governance in praxis by clinicians, managers and governors and highlights the adverse consequence of the absence of clear mapping of roles and responsibilities to clinical, management and governance practice.

7.
Arch Sex Behav ; 49(2): 711-720, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-30387019

RESUMEN

Previous research has shown that individuals belonging to multiple marginalized groups experience higher levels of psychological distress, which is linked to experiencing discrimination based on their multiple marginalized identities. One way that gay and bisexual men of color face discrimination is in the dating and sexual situations within the men who have sex with men community, which is sometimes termed sexual racism. Previous research has found that experienced discrimination on the basis of their race/ethnicity is positively related to depressive symptoms. The present study examined whether psychological flexibility mediates the effect of experiencing sexual racism on psychological distress. In this study, 439 men of color who have sex with men completed a series of questionnaires online on Amazon Mechanical Turk. Results showed that the indirect effects of experiencing sexual racism through psychological flexibility on depression (95% CI .22, .39), anxiety (95% CI .15, .29), and stress (95% CI .18, .33) were significant while controlling for demographic variables. Therefore, this model showed that psychological flexibility mediated and explained the effect of experiencing sexual racism on psychological distress. Clinical implications and future avenues of research are discussed.


Asunto(s)
Negro o Afroamericano/psicología , Distrés Psicológico , Racismo/psicología , Conducta Sexual/psicología , Estrés Psicológico/psicología , Adulto , Homosexualidad Masculina/psicología , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
8.
J Genet Couns ; 28(4): 836-846, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31058402

RESUMEN

The duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single-gene to multi-gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list-serv to complete an online survey assessing current practices and perspectives regarding recontacting patients about diagnostic genetic tests. Forty-one percent of respondents reported that they have recontacted patients to offer updated (new) diagnostic genetic testing (40/97). A majority (61%, 17/28), of genetic counselors who reported recontact specifically for panel testing indicated that the availability of management recommendations for genes not previously tested routinely was an important factor in the decision to recontact. All respondents who recontacted patients reported "improved patient care" as a perceived benefit. Respondents indicated that recontact is mostly a patient responsibility (49%), followed by a shared responsibility between the provider and patient (43%). Few respondents (2%) reported a uniform ethical duty to recontact patients regarding new and updated testing, while the majority (89%) felt that there was some degree of ethical duty. A greater percentage of those who reported past recontact practices reported intention to recontact in the future (p = 0.001). There is little consensus among the genetic counselor respondents about how to approach the recontacting of patients to offer updated genetic testing.


Asunto(s)
Consejeros , Deber de Recontacto , Ética Profesional , Asesoramiento Genético/normas , Pruebas Genéticas/normas , Asesoramiento Genético/ética , Humanos , Atención al Paciente
9.
Body Image ; 28: 142-148, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30682702

RESUMEN

Body image research with men who have sex with men (MSM) has largely focused on White MSM. The current study aimed to investigate whether men of color who have sex with men (MCSM) report similar levels of body dissatisfaction as White MSM. We also studied whether (a) the experience of sexual racism, a unique stressor for MCSM, is related to body dissatisfaction and (b) body image inflexibility moderates the relationship between sexual racism and muscularity-oriented behaviors. White MSM and MCSM (total N = 887) recruited through Amazon Mechanical Turk completed questionnaires assessing body dissatisfaction, body image flexibility, and experienced sexual racism on Qualtrics. We found that MCSM report more engagement in behaviors aimed at changing their bodies than White MSM. Additionally, experiencing sexual racism was related to higher body dissatisfaction and body image inflexibility in MCSM. In addition, body image inflexibility moderated by strengthening the association between experiencing sexual racism and muscularity-oriented behaviors. The present study highlights the need for further research with this understudied population, including intervention studies on mitigating the impact of experiencing sexual racism by increasing psychological and body image flexibility and studies aimed at reducing the incidence of sexual racism.


Asunto(s)
Imagen Corporal/psicología , Etnicidad/psicología , Homosexualidad Masculina/psicología , Satisfacción Personal , Racismo/psicología , Adolescente , Adulto , Anciano , Identidad de Género , Humanos , Masculino , Persona de Mediana Edad , Conducta Sexual , Somatotipos , Encuestas y Cuestionarios , Adulto Joven
10.
Transl Behav Med ; 8(1): 105-112, 2018 01 29.
Artículo en Inglés | MEDLINE | ID: mdl-29385579

RESUMEN

Consumer access to third-party services to interpret raw DNA has raised concerns about downstream healthcare implications. This mixed-methods study set out to examine the extent to which genetic counselors have been contacted by consumers of third-party services and describe counselors' experiences with these "consumer" patients. Counselor views on the quality of information provided to consumers were also examined. Eighty-five genetic counselors completed an online survey, of which 22 completed in-depth telephone interviews. Survey and interview data were analyzed and combined using triangulation techniques. Over half (53%) of the survey respondents indicated they had been contacted by a patient following the use of a third-party raw DNA interpretation service. Among counselors contacted, 72% saw at least one patient. Counselors reported challenges unique to this patient population including overemphasis by patients on the validity of the data and patient resistance to information provided by the counselor. Preparation time burden and counselor inexperience and discomfort counseling these patients were additional challenges. Counselors expressed concern about the quality of the raw data and the clarity and usefulness of interpretation reports. Genetic counselors' experiences with consumer's use of third-party DNA interpretation services provide insight on the opportunities and challenges with the availability of raw DNA directly to consumers. Efforts to better support both consumers and genetic service providers are needed to maximize the effective translation of genome-based knowledge for population health.


Asunto(s)
Asesoramiento Genético , Pruebas Genéticas , Actitud del Personal de Salud , Comportamiento del Consumidor , ADN , Asesoramiento Genético/métodos , Asesoramiento Genético/psicología , Pruebas Genéticas/métodos , Personal de Salud/psicología , Humanos , Internet , Investigación Cualitativa , Control de Calidad
11.
J Health Organ Manag ; 31(7-8): 682-695, 2017 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-29187084

RESUMEN

Purpose Clinical governance (CG) is an important foundation for a high-performing health care system, with many countries supporting its development. CG policy may be developed and implemented nationally, or devolved to a local level, with implications for the overall approach to implementation and policy uptake. However, it is not known whether one of these two approaches is more effective. The purpose of this paper is to probe this question. Its setting is Ireland and New Zealand, two broadly comparable countries with similar CG policies. Ireland's was nationally led, while New Zealand's was devolved to local districts. This leads to the question of whether these different approaches to implementation make a difference. Design/methodology/approach Data from surveys of health professionals in both countries were used to compare performance with CG development. Findings The study showed that Ireland's approach produced a slightly better performance, raising questions about the merits of devolving responsibility for policy implementation to the local level. Research limitations/implications The Irish and New Zealand surveys both had lower-than-desirable response rates, which is not uncommon for studies of health professionals such as this. The low response rates mean the findings may be subject to selection bias. Originality/value Despite the importance of the question of whether a national or local approach to policy implementation is more effective, few studies specifically focus on this, meaning that this study provides a new contribution to the topic.


Asunto(s)
Gestión Clínica , Gestión Clínica/organización & administración , Personal de Salud , Política de Salud , Humanos , Irlanda , Nueva Zelanda , Formulación de Políticas , Desarrollo de Programa , Calidad de la Atención de Salud/organización & administración , Encuestas y Cuestionarios
12.
J Health Organ Manag ; 29(4): 455-81, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26045190

RESUMEN

PURPOSE: The purpose of this paper is to present a description of the Irish national clinical governance development initiative and an evaluation of the initiative with the purpose of sharing the learning and proposing actions to activate structures and processes for quality and safety. The Quality and Patient Safety Division of the Health Service Executive established the initiative to counterbalance a possible focus on finances during the economic crisis in Ireland and bring attention to the quality of clinical care. DESIGN/METHODOLOGY/APPROACH: A clinical governance framework for quality in healthcare in Ireland was developed to clearly articulate the fundamentals of clinical governance. The project plan involved three overlapping phases. The first was designing resources for practice; the second testing the implementation of the national resources in practice; and the third phase focused on gathering feedback and learning. FINDINGS: Staff responded positively to the clinical governance framework. At a time when there are a lot of demands (measurement and scrutiny) the health services leads and responds well to focused support as they improve the quality and safety of services. Promoting the use of the term "governance for quality and safety" assisted in gaining an understanding of the more traditional term "clinical governance". The experience and outcome of the initiative informed the identification of 12 key learning points and a series of recommendations RESEARCH LIMITATIONS/IMPLICATIONS: The initial evaluation was conducted at 24 months so at this stage it is not possible to assess the broader impact of the clinical governance framework beyond the action project hospitals. PRACTICAL IMPLICATIONS: The single most important obligation for any health system is patient safety and improving the quality of care. The easily accessible, practical resources assisted project teams to lead changes in structures and processes within their services. This paper describes the fundamentals of the clinical governance framework which might serve as a guide for more integrative research endeavours on governance for quality and safety. ORIGINALITY/VALUE: Experience was gained in both the development of national guidance and their practical use in targeted action projects activating structures and processes that are a prerequisite to delivering safe quality services.


Asunto(s)
Gestión Clínica , Desarrollo de Programa/métodos , Irlanda , Seguridad del Paciente , Investigación Cualitativa , Calidad de la Atención de Salud
13.
J Genet Couns ; 24(1): 122-33, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25138080

RESUMEN

Access to genetic counselors' services is neither universal nor automatic, due in part to the gatekeeper role of healthcare payers--the companies and agencies that purchase healthcare services on patients' behalf and control the bulk of healthcare spending. This pilot study surveyed and analyzed the relative importance of barriers to expanded payer coverage of genetic counselors' services. Surveys were mailed to 263 medical directors and quality assurance directors at health insurance carriers throughout the United States. Respondents provided demographic information and indicated the importance of nine possible barriers, plus an optional write-in "other." Twenty-two surveys were analyzed. "Evidence that use of genetic counselors improves health outcomes" led the list of factors having a significant/very significant influence on coverage policy. Sixteen respondents (73 %) rated this factor "4" or "5" on a Likert scale; it also received the most #1 rankings and the highest score using a weighted-mean analysis. Provider practice guidelines, CMS/Medicare regulations, and genetic counselor licensure-all of which are outside of payers' direct control-also ranked highly. The research demonstrates that although the potential barriers to expanded reimbursement for genetic counselors are numerous and complex, some are more consistently identified as important and therefore more deserving of legislative and advocacy resources to effect change. Future research should endeavor to increase survey response and include providers as well as payers.


Asunto(s)
Asesoramiento Genético/economía , Pruebas Genéticas/economía , Cobertura del Seguro/estadística & datos numéricos , Pautas de la Práctica en Medicina/economía , Adulto , Consejo/economía , Femenino , Asesoramiento Genético/estadística & datos numéricos , Pruebas Genéticas/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Ejecutivos Médicos/estadística & datos numéricos , Proyectos Piloto , Estados Unidos
15.
Am J Med Genet A ; 155A(1): 141-4, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21204222

RESUMEN

Renpenning syndrome is a well-described X-linked condition associated with multiple congenital anomalies and intellectual disability [OMIM 309500]. Typical signs include microcephaly, dysmorphic features, short stature, small testes, and lean body build. Renpenning syndrome is caused by mutations in the polyglutamine binding protein 1 (PQBP1) gene. Missense mutations, insertions, deletions, and duplications within the gene have been well-described. We present a 47-year-old male with clinical features resembling Renpenning syndrome. He has moderate intellectual disability, seizures since infancy, short stature, small testes, and dysmorphic features. Of note, our patient is normocephalic. A CT scan at 14 years of age showed cerebral atrophy. He had previously been verbally communicative and had few behavioral issues. Recently, our patient has regressed and has become uncommunicative, displaying little and unclear speech. He now exhibits memory and recognition loss and is uncooperative, aggressive, self-abusive, and incontinent. The reason for his regression within the past 4 years is unclear. SNP microarray analysis (500K) revealed a 4.7 Mb duplication at Xp11.22-p11.23. Multiple ligation probe amplification (MLPA) of the PQBP1 gene contained within this duplicated region confirmed a duplication of the entire PQBP1 gene. Multiple other genes are duplicated within this 4.7 Mb region and may contribute to his phenotype.


Asunto(s)
Proteínas Portadoras/genética , Aberraciones Cromosómicas , Cromosomas Humanos X/genética , Duplicación de Gen/genética , Proteínas Nucleares/genética , Fenotipo , Parálisis Cerebral/genética , Proteínas de Unión al ADN , Progresión de la Enfermedad , Humanos , Hibridación Fluorescente in Situ , Masculino , Discapacidad Intelectual Ligada al Cromosoma X/genética , Análisis por Micromatrices , Polimorfismo de Nucleótido Simple/genética
16.
Prev Chronic Dis ; 7(1): A22, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20040237

RESUMEN

Cancer survivors face numerous medical and psychosocial challenges, which the medical and public health systems are ill-equipped to deal with. In May 2008, the Massachusetts Comprehensive Cancer Control Coalition conducted a Survivorship Summit to elicit input from cancer survivors and professionals on developing system-level action plans for cancer survivorship issues. We describe how health care and public health professionals can implement similar events. Our results suggest that a cancer survivorship summit can be a valuable tool for cancer coalitions and advocacy organizations in determining survivorship agendas and action plans.


Asunto(s)
Personal de Salud/normas , Neoplasias/prevención & control , Administración en Salud Pública/normas , Humanos , Massachusetts/epidemiología , Neoplasias/epidemiología , Planificación de Atención al Paciente , Satisfacción Personal , Administración en Salud Pública/métodos , Calidad de Vida , Factores de Riesgo
17.
Am J Obstet Gynecol ; 200(3): 321.e1-6, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19254590

RESUMEN

OBJECTIVE: The objective of the study was to report experience with prenatal molecular diagnosis of tuberous sclerosis complex (TSC). STUDY DESIGN: Sequential deoxyribonucleic acid (DNA) studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC. Mutations were determined by gene sequencing and deletion/duplication analysis of the 2 TSC genes. RESULTS: DNA analysis was successful in 48 of 50 tested fetuses. Mutations were precisely identified in a family member (24) (TSC1 [5]; TSC2 [19]) and/or fetus (11) (TSC1 [3]; TSC2 [8]). Novel mutations were found in 19 individual families, and a probable polymorphism was noted in 4. Second-trimester ultrasound detected 18 fetuses with cardiac rhabdomyomas. There was insufficient DNA in 1, whereas 8 of 17 (47%) had a mutation, 6 (75%) being in TSC2. In 4 of 18 cases, a mutation was detected in the fetus for the first time despite a parent known to have TSC. CONCLUSION: The value and utility of prenatal diagnosis of TSC by DNA analysis was demonstrated by the results in this series of 50 pregnancies in women at risk of having affected offspring. A family history of TSC or detection of fetal cardiac rhabdomyoma should prompt genetic evaluation and counseling of parents and the option of prenatal diagnosis.


Asunto(s)
Pruebas Genéticas , Diagnóstico Prenatal/métodos , Esclerosis Tuberosa/genética , Proteínas Supresoras de Tumor/genética , Salud de la Familia , Femenino , Asesoramiento Genético , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/epidemiología , Neoplasias Cardíacas/genética , Humanos , Polimorfismo Genético , Embarazo , Rabdomioma/diagnóstico , Rabdomioma/epidemiología , Rabdomioma/genética , Factores de Riesgo , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/epidemiología , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteína 2 del Complejo de la Esclerosis Tuberosa
18.
PLoS One ; 4(1): e4283, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19172182

RESUMEN

BACKGROUND: Cystic fibrosis (CF) has many effects on the gastrointestinal tract and a common problem in this disease is poor nutrition. In the CF mouse there is an innate immune response with a large influx of mast cells into the muscularis externa of the small intestine and gastrointestinal dysmotility. The aim of this study was to evaluate the potential role of mast cells in gastrointestinal dysmotility using the CF mouse (Cftr(tm1UNC), Cftr knockout). METHODOLOGY: Wild type (WT) and CF mice were treated for 3 weeks with mast cell stabilizing drugs (ketotifen, cromolyn, doxantrazole) or were treated acutely with a mast cell activator (compound 48/80). Gastrointestinal transit was measured using gavage of a fluorescent tracer. RESULTS: In CF mice gastric emptying at 20 min post-gavage did not differ from WT, but was significantly less than in WT at 90 min post-gavage. Gastric emptying was significantly increased in WT mice by doxantrazole, but none of the mast cell stabilizers had any significant effect on gastric emptying in CF mice. Mast cell activation significantly enhanced gastric emptying in WT mice but not in CF mice. Small intestinal transit was significantly less in CF mice as compared to WT. Of the mast cell stabilizers, only doxantrazole significantly affected small intestinal transit in WT mice and none had any effect in CF mice. Mast cell activation resulted in a small but significant increase in small intestinal transit in CF mice but not WT mice. CONCLUSIONS: The results indicate that mast cells are not involved in gastrointestinal dysmotility but their activation can stimulate small intestinal transit in cystic fibrosis.


Asunto(s)
Fibrosis Quística/patología , Tránsito Gastrointestinal/fisiología , Mastocitos/metabolismo , Animales , Fibrosis Quística/metabolismo , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Modelos Animales de Enfermedad , Vaciamiento Gástrico/efectos de los fármacos , Mucosa Gástrica/metabolismo , Tracto Gastrointestinal/patología , Inmunidad Innata , Intestino Delgado/patología , Mastocitos/citología , Ratones , Ratones Endogámicos C57BL , Ratones Transgénicos , Tioxantenos/farmacología , Xantonas/farmacología
19.
J Nurs Manag ; 16(8): 1002-11, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19094114

RESUMEN

AIM: The aim of this research was to investigate characteristics of the nursing practice environment and the impact of organizational structures and processes on nursing in 11 major acute general hospitals in Ireland from the perspective of staff-nurses (n = 368) and Directors of Nursing (n = 10). METHODS: The study was descriptive, cross-sectional and quantitative. The Nursing Work Index-Revised (NWI-R) and an instrument developed by Havens were used and Directors of Nursing supplied hospital documentary evidence of organizational structures and processes. A convenience sample of 368 staff-nurses and 10 Directors of Nursing, participated. RESULTS: Staff-nurses had a moderately positive perception of relationships with doctors (2.77); autonomy in practice (2.56); organizational support (2.51) and control over practice settings (2.35). A significant statistical difference was found between the practice environments in the 11 hospitals, particularly in relation to organizational support (P = 0.001); control over practice setting (P = 0.003); nurse autonomy (P = 0.004) and nurse-doctor relationships (P = 0.024). CONCLUSION: When comparisons were made with US Magnet hospital research findings, lower scores on all dimensions of professional practice environment were achieved by Irish nurses.


Asunto(s)
Hospitales Generales , Atención de Enfermería , Personal de Enfermería en Hospital/provisión & distribución , Adulto , Actitud del Personal de Salud , Estudios Transversales , Femenino , Hospitales Generales/estadística & datos numéricos , Humanos , Relaciones Interprofesionales , Irlanda , Masculino , Persona de Mediana Edad , Modelos Organizacionales , Recursos Humanos
20.
J Pediatr Gastroenterol Nutr ; 47(4): 406-16, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18852632

RESUMEN

OBJECTIVES: Imbalances in essential fatty acid levels have been reported in cystic fibrosis (CF), which may relate to elevated proinflammatory eicosanoid generation. The aim of this work was to better define eicosanoid metabolism in the CF intestine. MATERIALS AND METHODS: We used the small intestine of the cystic fibrosis transmembrane conductance regulator knockout mouse (CF mouse) to measure eicosanoid metabolic gene expression by quantitative reverse transcription polymerase chain reaction and Western blot, and eicosanoid levels by enzyme immunoassay, as compared with wild-type (WT) littermates. RESULTS: In the CF small intestine, expression of the secretory phospholipase A2 Pla2g5 mRNA was upregulated to 980% of WT levels. The following were downregulated: leukotriene C4 synthase Ltc4s (mRNA 55% of WT); omega-hydroxylase cytochrome P450s Cyp2c40 (mRNA 54% of WT), and Cyp4a10 (mRNA 4% of WT); and the major prostaglandin degradative enzymes prostaglandin dehydrogenase Hpgd (mRNA 27% of WT) and leukotriene B4 12-hydroxydehydrogenase/15-oxo-prostaglandin 13-reductase Ltb4dh (mRNA 64% and protein 30% of WT). The prostaglandins PGE2 and PGF2alpha were increased to 400% to 600% of WT levels in the CF mouse intestine, and the hydroxyeicosatetraenoic acids (HETEs) 12-, 15-, and 20-HETE were decreased to 3% to 20% of WT levels. CONCLUSIONS: There are changes in eicosanoid metabolic gene expression that are accompanied by significant changes in specific eicosanoid levels. These changes are expected to play important roles in the pathophysiology of CF in the intestine.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/deficiencia , Fibrosis Quística/metabolismo , Eicosanoides/metabolismo , Regulación Enzimológica de la Expresión Génica , Intestino Delgado/metabolismo , Animales , Western Blotting , Fibrosis Quística/enzimología , Fibrosis Quística/fisiopatología , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Femenino , Inmunohistoquímica , Intestino Delgado/enzimología , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos
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