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1.
Nurs Inq ; 30(4): e12588, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37501278

RESUMEN

Current health policy, high-profile failures and increased media scrutiny have led to a significant focus on patient experience in Britain's National Health Service (NHS). Patient experience data is typically gathered through surveys of satisfaction. The study aimed to support a better understanding of the patient experience and patients' expression of it through consideration of the aspects of the patient experience on NHS wards which are by their nature impossible to capture through patient satisfaction surveys. Existential phenomenology was used to develop an in-depth exploratory narrative, expressed through the voices of the participants. Data collection involved in-depth face-to-face interviews with 12 purposively sampled participants, with analysis by means of hermeneutics. Though the individuality of each experience was apparent and cannot be overemphasised, common factors emerging from the data included uncertainty and unexpectedness, suffering and finitude, the futility of feedback and bureaucracy and absurdity. Overall, participants demonstrated how their individual personalities and expectations affected their response both to illness or injury and to their hospital admissions, highlighting feelings of vulnerability and voicelessness as a response to hospitalisation. The findings of this study provide useful insight into the patient experience on British hospital wards, and the value of an existential-phenomenological approach is demonstrated.

2.
Nurs Inq ; 29(4): e12486, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35266239

RESUMEN

The purpose of this contemporary history study is to analyse nursing strategy documents produced by NHS Trusts in England in the period 2009-2013, through a process of discourse analysis. In 2013 the Francis Report on the Mid-Staffordshire NHS Foundation Trust was published. The Report highlighted the full range of organisational failures in a Trust that valued financial efficiency over patient care. The analysis that followed, however, dwelt heavily on the failings of the nurses. Nursing strategy documents at that time served to set the future direction for NHS Trusts, prescribing specific value frameworks for each nursing workforce. However, the values chosen frequently conflicted with each other pitting nursing values against a managerial trope. It is argued that documents provided a response to wider NHS concerns and high-profile failures in care, particularly the Francis Report, paying lip service to staff engagement whilst maintaining a corporate focus. Nursing values were placed firmly within a managerialist discourse, one that has needed to be re-evaluated in the current Covid-19 pandemic. Wider implications of the research suggest discussion of value conflict may be beneficial within nursing education and a truly local approach to strategy creation would potentially promote staff buy-in to strategy documents.


Asunto(s)
COVID-19 , Personal de Enfermería , Humanos , Empatía , Medicina Estatal , Pandemias
3.
J Reprod Med ; 66(2): 59-66, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35664692

RESUMEN

The COVID-19 pandemic has stressed healthcare systems in the United States and globally. Limited hospital resources, increasing patient surge, and growing demands on healthcare providers have led to the United States Surgeon General and the Centers for Medicare & Medicaid Services calling for suspension of all nonessential adult elective surgery and medical procedures. As of March 27, 2020, 30 states had issued similar declarations related to elective procedures in the setting of the continuing COVID-19 pandemic. Two major questions have emerged as these events have unfolded: (1) What is the definition of an "elective" procedure? and (2) Are there specialty-specific considerations for obstetric and gynecologic procedures? This article provides insights into each of these questions and provides a working framework for obstetrician/gynecologists to advocate for their patients and coordinate with their hospital systems to develop "elective" procedure guidelines that incorporate considerations for women's and maternal health.

4.
Gerontol Geriatr Educ ; 42(3): 399-422, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33252017

RESUMEN

Appropriately skilled staff are required to meet the health and care needs of aging populations yet, shared competencies for the workforce are lacking. This study aimed to develop multidisciplinary core competencies for health and aged care workers in Australia through a scoping review and Delphi survey. The scoping review identified 28 records which were synthesized through thematic analysis into draft domains and measurable competencies. Consensus was sought from experts over two Delphi rounds (n = 111 invited; n = 59 round one; n = 42 round two). Ten domains with 66 core competencies, to be interpreted and applied according to the worker's scope of practice were finalized. Consensus on multidisciplinary core competencies which are inclusive of a broad range of registered health professionals and unregistered aged care workers was achieved. Shared knowledge, attitudes, and skills across the workforce may improve the standard and coordination of person-centered, integrated care for older Australians from diverse backgrounds.


Asunto(s)
Geriatría , Anciano , Envejecimiento , Australia , Competencia Clínica , Técnica Delphi , Geriatría/educación , Humanos , Recursos Humanos
5.
Am J Obstet Gynecol ; 221(5): 377-382, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31029660

RESUMEN

This article, from the To the Point series prepared by the Association of Professors of Gynecology and Obstetrics Undergraduate Medical Education Committee, is an overview of issues to consider regarding learner mistreatment and its effects on the undergraduate medical education learning environment in the United States. National data from the American Association of Medical Colleges Graduate Questionnaire and local data regarding learner mistreatment provide evidence that the learning environment at most medical schools needs to be improved. The American Association of Medical Colleges' definition of learner mistreatment focuses on active mistreatment, but data on passive mistreatment also contribute to a negative learning environment. The lack of tolerance for active mistreatment issues such as public humiliation and sexual and racial harassment need to be made transparent through institutional and departmental policies. Additionally, reporting mechanisms at both levels need to be created and acted upon. Passive mistreatment issues such as unclear expectations and neglect can also be addressed at institutional and departmental levels through training modules and appropriate communication loops to address these concerns. To fully confront and solve this challenging issue regarding learner mistreatment at the undergraduate medical education level, solutions to need to be implemented for faculty, residents, and students in the institutional, departmental, and clerkship settings.


Asunto(s)
Educación de Pregrado en Medicina , Mala Conducta Profesional , Facultades de Medicina , Medio Social , Estudiantes de Medicina/psicología , Acoso Escolar , Prácticas Clínicas , Humanos , Política Organizacional , Racismo , Sexismo , Vergüenza , Estados Unidos
6.
Am J Obstet Gynecol ; 220(2): 129-141, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30696555

RESUMEN

This article, from the "To the Point" series prepared by the Association of Professors of Gynecology and Obstetrics (APGO) Undergraduate Medical Education Committee (UMEC), provides educators with an overview of the use of simulation in undergraduate medical education in the field of obstetrics and gynecology. Simulation plays an important role in the education of medical students. Students are increasingly serving as clinical observers and providing less direct patient care. Simulation can help standardize education and ensure quality and comparability across an enlarging educational environment. This article summarizes the expanding role of simulation in undergraduate medical education in obstetrics and gynecology and its effect on important learner outcomes such as confidence, knowledge, skills, workplace behaviors, and translation to patient care.


Asunto(s)
Educación de Pregrado en Medicina/métodos , Ginecología/educación , Obstetricia/educación , Entrenamiento Simulado/métodos , Competencia Clínica , Humanos , Estados Unidos
7.
Am J Obstet Gynecol ; 221(6): 542-548, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31181180

RESUMEN

This article is from the "To The Point" series prepared by the Association of Professors of Gynecology and Obstetrics Undergraduate Medical Education Committee. The purpose of this review was to provide an overview of the importance of well-being in medical education. A literature search was performed by a Reference Librarian who used Ovid/MEDLINE to identify scholarly articles published in English on learner well-being, using the search terms "burnout," "resilience," "wellness," and "physicians" between 1946 and January 11, 2019. The accreditation expectations and standards, available assessment tools for learner well-being, existing programs to teach well-being, and some key elements for curriculum development are presented. This is a resource for medical educators, learners, and practicing clinicians from any field of medicine.


Asunto(s)
Agotamiento Profesional/prevención & control , Curriculum , Educación Médica/métodos , Estado de Salud , Salud Mental , Resiliencia Psicológica , Agotamiento Profesional/diagnóstico , Agotamiento Profesional/terapia , Dieta Saludable , Educación de Postgrado en Medicina/métodos , Educación de Pregrado en Medicina/métodos , Ejercicio Físico , Humanos , Internado y Residencia , Atención Plena , Sueño , Estudiantes de Medicina/psicología
8.
Am J Obstet Gynecol ; 218(2): 188-192, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28599897

RESUMEN

This article, from the "To The Point" series that was prepared by the Association of Professors of Gynecology and Obstetrics Undergraduate Medical Education Committee, provides an overview of the characteristics of millennials and describes how medical educators can customize and reframe their curricula and teaching methods to maximize millennial learning. A literature search was performed to identify articles on generational learning. We summarize the importance of understanding the attitudes, ideas, and priorities of millennials to tailor educational methods to stimulate and enhance learning. Where relevant, a special focus on the obstetrics and gynecology curriculum is highlighted.


Asunto(s)
Educación de Pregrado en Medicina/métodos , Educación de Pregrado en Medicina/tendencias , Ginecología/educación , Obstetricia/educación , Instrucción por Computador/métodos , Instrucción por Computador/tendencias , Curriculum/tendencias , Ginecología/tendencias , Humanos , Relaciones Intergeneracionales , Aprendizaje , Obstetricia/tendencias , Medios de Comunicación Sociales/tendencias , Estados Unidos
9.
Am J Obstet Gynecol ; 219(5): 430-435, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29852154

RESUMEN

Gender differences in performance on the obstetrics and gynecology clerkship have been reported, with female students outperforming male students. Male students report that their gender negatively affects their experience during the clerkship. Additionally, there are fewer male students applying for obstetric/gynecology residency. This "To The Point" article by the Association of Professors of Gynecology and Obstetrics Undergraduate Medical Education Committee will describe the gender differences that have been found, examine factors that could be contributing to these issues, and propose measures to correct these disparities.


Asunto(s)
Prácticas Clínicas/métodos , Prácticas Clínicas/estadística & datos numéricos , Ginecología/educación , Obstetricia/educación , Factores Sexuales , Selección de Profesión , Educación de Pregrado en Medicina , Evaluación Educacional , Evaluación del Rendimiento de Empleados , Femenino , Humanos , Masculino , Evaluación de Programas y Proyectos de Salud , Sexismo , Estudiantes de Medicina , Encuestas y Cuestionarios
10.
Teach Learn Med ; 30(4): 444-450, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29578818

RESUMEN

ISSUE: This article, from the "To the Point" series that is prepared by the Association of Professors of Gynecology and Obstetrics Undergraduate Medical Education Committee, is a review of commonly cited barriers to recruiting and retaining community-based preceptors in undergraduate medical education and potential strategies to overcome them. EVIDENCE: Community-based preceptors have traditionally served as volunteer, nonsalaried faculty, with academic institutions relying on intrinsic teaching rewards to sustain this model. However, increasing numbers of learners, the burdens of incorporating the electronic medical record in practice, and increasing demands for clinical productivity are making recruitment and retention of community-based preceptors more challenging. IMPLICATIONS: General challenges to engaging preceptors, as well as those unique to women's health, are discussed. Potential solutions are reviewed, including alternative recruitment strategies, faculty development to emphasize efficient teaching practices in the ambulatory setting, offers of online educational resources, and opportunities to incorporate students in value-added roles. Through examples cited in this review, clerkship directors and medical school administrators should have a solid foundation to actively engage their community-based preceptors.


Asunto(s)
Educación de Pregrado en Medicina/organización & administración , Mentores , Preceptoría/organización & administración , Estudiantes de Medicina/estadística & datos numéricos , Docentes Médicos/organización & administración , Femenino , Ginecología/educación , Humanos , Obstetricia/educación , Facultades de Medicina/organización & administración , Estudiantes de Medicina/psicología , Estados Unidos
11.
Am J Perinatol ; 33(5): 510-7, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26683604

RESUMEN

OBJECTIVE: The objective of this study was to evaluate the risk of recurrent group B streptococcus (GBS) colonization in a subsequent pregnancy and to assess clinical characteristics that influence this risk. STUDY DESIGN: A systematic review and meta-analysis was performed. Databases were searched from inception through June 2015 using PubMed, Embase, Scopus, Central, and ClinicalTrials.gov. Studies were eligible if they assessed antenatal GBS colonization in two successive pregnancies. The quality of included studies was evaluated. Independent patient data was requested from the authors of the included trials. Unadjusted odds ratios (OR) were pooled using the Mantel-Haenszel fixed effect model. RESULTS: In the five studies identified, two studies lacked a nonexposed cohort. GBS colonization in the index pregnancy was associated with a higher risk of recurrence of GBS colonization in a subsequent pregnancy (three studies: 50.2 compared with 14.1%; pooled fixed effects OR, 6.05; 95% confidence interval [CI], 4.84-7.55). When heavy colonization with GBS was compared with colonization by vaginal culture only, an increased risk of recurrence was shown (four studies: 52.0 compared with 45.1%, pooled fixed effects OR, 1.54; 95% CI, 1.02-2.31). CONCLUSION: Women colonized with GBS are at significantly higher odds for recurrent colonization in a subsequent pregnancy when compared with women who were not colonized in an index pregnancy. If the individual is considered heavily colonized with GBS, there appears to be an association with an increased risk compared with conventional culture. Subgroup analysis of the variables time interval ≤ 12 months between subsequent pregnancies, body mass index ≥ 30 kg/m(2), race, ethnicity, and primiparous in the subsequent pregnancy showed no effect.


Asunto(s)
Portador Sano/diagnóstico , Complicaciones Infecciosas del Embarazo/diagnóstico , Infecciones Estreptocócicas/diagnóstico , Streptococcus agalactiae , Femenino , Humanos , Tamizaje Masivo , Oportunidad Relativa , Embarazo , Recurrencia
12.
BMC Med Educ ; 16(1): 314, 2016 Dec 16.
Artículo en Inglés | MEDLINE | ID: mdl-27986086

RESUMEN

BACKGROUND: Learning to perform pelvic and breast examinations produces anxiety for many medical students. Clerkship directors have long sought strategies to help students become comfortable with the sensitive nature of these examinations. Incorporating standardized patients, simulation and gynecologic teaching associates (GTAs) are approaches gaining widespread use. However, there is a paucity of literature guiding optimal approach and timing. Our primary objective was to survey obstetrics and gynecology (Ob/Gyn) clerkship directors regarding timing and methods for teaching and assessment of pelvic and breast examination skills in United States medical school curricula, and to assess clerkship director satisfaction with current educational strategies at their institutions. METHODS: Ob/Gyn clerkship directors from all 135 Liaison Committee on Medical Education accredited allopathic United States medical schools were invited to complete an anonymous 15-item web-based questionnaire. RESULTS: The response rate was 70%. Pelvic and breast examinations are most commonly taught during the second and third years of medical school. Pelvic examinations are primarily taught during the Ob/Gyn and Family Medicine (FM) clerkships, while breast examinations are taught during the Ob/Gyn, Surgery and FM clerkships. GTAs teach pelvic and breast examinations at 72 and 65% of schools, respectively. Over 60% of schools use some type of simulation to teach examination skills. Direct observation by Ob/Gyn faculty is used to evaluate pelvic exam skills at 87% of schools and breast exam skills at 80% of schools. Only 40% of Ob/Gyn clerkship directors rated pelvic examination training as excellent, while 18% rated breast examination training as excellent. CONCLUSIONS: Pelvic and breast examinations are most commonly taught during the Ob/Gyn clerkship using GTAs, simulation trainers and clinical patients, and are assessed by direct faculty observation during the Ob/Gyn clerkship. While the majority of Ob/Gyn clerkship directors were not highly satisfied with either pelvic or breast examination training programs, they were less likely to describe their breast examination training programs as excellent as compared to pelvic examination training-overall suggesting an opportunity for improvement. The survey results will be useful in identifying future challenges in teaching such skills in a cost-effective manner.


Asunto(s)
Prácticas Clínicas/normas , Curriculum , Educación de Pregrado en Medicina/normas , Ginecología/educación , Obstetricia/educación , Examen Físico , Facultades de Medicina , Estudiantes de Medicina , Mama , Evaluación Educacional , Femenino , Humanos , Pelvis , Examen Físico/normas , Estados Unidos
13.
Am J Obstet Gynecol ; 213(4): 464-8, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25857571

RESUMEN

This article, from the "To the Point" series that is prepared by the Association of Professors of Gynecology and Obstetrics Undergraduate Medical Education Committee, is a review of considerations for teaching the medical student in the operating room during the obstetrics/gynecology clerkship. The importance of the medical student operating room experience and barriers to learning in the operating room are discussed. Specific considerations for the improvement of medical student learning and operating room experience, which include the development of operating room objectives and specific curricula, an increasing awareness regarding role modeling, and faculty development, are reviewed.


Asunto(s)
Prácticas Clínicas/métodos , Educación de Pregrado en Medicina/métodos , Ginecología/educación , Obstetricia/educación , Curriculum , Humanos , Quirófanos
14.
Am J Obstet Gynecol ; 211(1): 18-23, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24334202

RESUMEN

This article, from the To the Point series prepared by the Association of Professors of Gynecology and Obstetrics Undergraduate Medical Education Committee, provides educators with an overview of considerations for obstetrics and gynecology global health experiences for the medical student. Options for integration of obstetrics and gynecology global health into undergraduate medical curricula are discussed. Specific considerations for global health clinical experiences for medical students, including choosing a clinical location, oversight and mentorship, goals and objectives, predeparture preparation, and evaluation, are reviewed.


Asunto(s)
Educación de Pregrado en Medicina/métodos , Salud Global , Ginecología/educación , Obstetricia/educación , Curriculum , Humanos , Estados Unidos
15.
Contraception ; 136: 110479, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38710354

RESUMEN

OBJECTIVE: Nearly half of obstetrics and gynecology (OB/GYN) residency programs in the United States lost access to local training in abortion care following the 2022 Dobbs v Jackson Supreme Court decision. We aimed to determine whether OB/GYN residency candidates who desire abortion training apply to programs in states where abortion is restricted/banned. STUDY DESIGN: In 2023, we conducted an anonymous electronic survey of residency interviewees at three large academic OB/GYN programs about the importance of various program characteristics in their selection process. We chose to represent both very restrictive and protective environments for abortion care. We stratified respondents by importance of abortion training in applying to programs (essential or very important [high preference group] vs moderately, slightly, or not important [low preference group]). RESULTS: We analyzed 175 completed surveys (response rate 56%). Of 175 respondents, most (n = 115, 66%) stated that access to abortion training was essential (33%) or very important (33%) when applying to programs. Both high preference group (82%) and low preference group respondents (98%) applied in states where abortion is banned or restricted. Respondents applied in banned/restricted states due to geography, concern about applying to too few programs, and expectation that the program would provide out-of-state training nonetheless. CONCLUSION: The majority of survey respondents who reported that access to abortion training during residency is essential or very important applied to programs where abortion training is not locally available. Most of these applicants expected programs in restricted states to provide training regardless. IMPLICATIONS: Residency programs should be aware of the importance of abortion training to applicants, as well as abortion training expectations, and work to develop opportunities and strengthen training networks in abortion care to meet candidates' needs and ensure adequate learning opportunities exist for all.


Asunto(s)
Aborto Inducido , Ginecología , Internado y Residencia , Obstetricia , Obstetricia/educación , Estados Unidos , Humanos , Ginecología/educación , Aborto Inducido/educación , Aborto Inducido/legislación & jurisprudencia , Femenino , Encuestas y Cuestionarios , Embarazo , Masculino
16.
Am J Perinatol ; 30(5): 383-8, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23023558

RESUMEN

OBJECTIVE: To determine whether group B Streptococcus (GBS)-colonized pregnant women have an increased prevalence of GBS colonization in subsequent pregnancies. STUDY DESIGN: This retrospective cohort study compared the prevalence of GBS colonization in initial and subsequent pregnancies of 158 women with two or more deliveries at a Midwest institution since the initiation of universal screening for GBS. RESULTS: The GBS colonization rate in index pregnancies was 20%. Colonization rate in subsequent pregnancies for initially GBS-colonized women was 42% compared with 19% for women who were not colonized with GBS in the index pregnancy (p = 0.009). The relative risk for GBS-colonized women to be GBS-colonized in subsequent pregnancies was 2.2 (confidence interval = 1.3 to 3.8). CONCLUSION: Previous GBS colonization is a risk factor for GBS colonization in subsequent pregnancies. Consideration of intrapartum chemoprophylaxis in women with a history of GBS colonization, assuming current colonization status is unknown, warrants further investigation.


Asunto(s)
Complicaciones Infecciosas del Embarazo/epidemiología , Infecciones Estreptocócicas/epidemiología , Streptococcus agalactiae , Adulto , Estudios de Cohortes , Femenino , Humanos , Embarazo , Prevalencia , Recto/microbiología , Recurrencia , Estudios Retrospectivos , Vagina/microbiología , Adulto Joven
17.
Obstet Gynecol ; 142(2): 364-370, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37411036

RESUMEN

OBJECTIVE: To assess the change in competitiveness of obstetrics and gynecology programs over 20 years using a normalized competitive index. METHODS: Obstetrics and gynecology match data were obtained from the National Resident Matching Program (NRMP) for 2003-2022. Applicant metrics (United States Medical Licensing Examination scores, score percentiles, research output and experiences, and work and volunteer experiences) were obtained from the NRMP and the Association of American Medical Colleges (2007-2021). The competitive index was calculated using the number of positions available divided by match rate each year between 2003 and 2022. The normalized competitive index was calculated by dividing the yearly competitive index by the average competitive index over 20 years. Data were analyzed using univariate analysis and linear regressions. RESULTS: When comparing the two decades (2003-2012 vs 2013-2022), applicants (1,539±242 vs 1,902±144; P <.001), positions (1,173±31 vs 1,345±98; P <.001), and number of programs ranked per applicant (13±1.4 vs 15±0.6; P <.001) have increased. While the match rate did not significantly change from 2003 to 2022 (75.5%±9.9% vs 70.5%±1.6%; P =.14), the normalized competitive index increased (R 2 =0.92, P <.001), indicating increased competitiveness. Applicant metrics increased over time, including research output (2.4±0.8 vs 5.0±0.7; P =.002) and work experiences (2.9±0.2 vs 3.6±0.1; P =.002; R 2 =0.98, P< .001). CONCLUSION: Despite an increase in obstetrics and gynecology applicants and applicant metrics, match rates remain unchanged. However, the competitiveness of programs has significantly increased, as demonstrated by the normalized competitive index, applicants per position, and applicant metrics. The normalized competitive index is a useful metric for applicants to determine program or applicant competitiveness, especially when used alongside applicant metrics.


Asunto(s)
Ginecología , Internado y Residencia , Obstetricia , Humanos , Estados Unidos , Benchmarking , Modelos Lineales
18.
Am J Surg ; 226(6): 868-872, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37507253

RESUMEN

BACKGROUND: The COVID-19 pandemic decreased the operative case volume for surgical residents. Our institution implemented Entrustable Professional Activities (EPAs) in all core surgical training programs to document the competency of graduating residents. Continuation of this project aimed to improve implementation. METHODS: This project occurred at a large academic center with eight surgical specialties during the 2020-21 (Year 1) and 2021-22 (Year 2) academic years. Each specialty chose five EPAs, and residents were asked to obtain three micro-assessments per EPA. After the initial pilot year, program directors were surveyed regarding perceptions of EPA utility and barriers to implementation. RESULTS: Seventy senior residents completed 732/906 (80.8%) micro-assessments. Of these, 99.6% were deemed practice ready. Total micro-assessment completion rates in four specialties, four specific EPAs (including one EPA identified "at risk" due to the COVID-19 pandemic), and overall were significantly higher in Year 2 than Year 1 (p â€‹< â€‹0.05) CONCLUSIONS: Implementing EPAs in all core surgical specialties at an institution is achievable, though expectedly initially imperfect. An ongoing quality collaborative initiative focused on barriers to implementation can improve completion rates.


Asunto(s)
COVID-19 , Internado y Residencia , Humanos , Pandemias , Mejoramiento de la Calidad , Educación Basada en Competencias , Competencia Clínica , COVID-19/epidemiología
19.
Am J Med Genet A ; 158A(8): 1924-33, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22786685

RESUMEN

The presence of more than one cell line in an individual may often be missed by classical cytogenetic analysis due to a low percentage of affected cells or analysis of cells from an unaffected or less affected germ layer. Array comparative genomic hybridization (aCGH) from whole blood or tissue is an important adjunct to standard karyotyping due to its ability to detect genomic imbalances that are below the resolution of karyotype analysis. We report results from three unrelated patients in whom aCGH revealed mosaicism not identified by peripheral blood chromosome analysis. This study further illustrates the important application of aCGH in detecting tissue-specific mosaicism, thereby leading to an improvement in the ability to provide a diagnosis for patients with normal chromosome analysis and dysmorphic features, congenital anomalies, and/or developmental delay.


Asunto(s)
Hibridación Genómica Comparativa , Mosaicismo , Análisis de Secuencia por Matrices de Oligonucleótidos , Adolescente , Adulto , Femenino , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Masculino
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