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The under-representation of minoritized or previously oppressed groups in research challenges the current universal understanding of professional identity formation (PIF). To date, there has been no recognition of an African influence on PIF, which is crucial for understanding this phenomenon in places like South Africa, a society in which the inequity of the apartheid era still prevails. In addition, there is little data examining how social upheaval could impact PIF. This study uses interviews with medical students to explore PIF within the context of social upheaval during the 2015-2016 protests that rocked South Africa when students challenged asymmetries of power and privilege that persisted long after the country's democratic transition. The combination of the primary author's autoethnographic story, weaved into the South African sociohistorical context and ubuntu philosophy, contributes to this study of PIF in the South African context. The use of an African metaphor allowed the reorientation of PIF to reflect the influence of an ubuntu-based value system. Using the calabash as a metaphor, participants' experiences were framed and organized in two ways: a calabash worldview and the campus calabash. The calabash worldview is a multidimensional mixture of values that include ubuntu, reflections of traditional childhoods, and the image of women as igneous rocks, which recognizes the power and influence on PIF of the women who raised the participants. Introducing an African ubuntu-based perspective into the PIF discourse may redirect the acknowledgement of context and local reality in developing professional identity.
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Identificación Social , Estudiantes de Medicina , Humanos , Femenino , África , FilosofíaRESUMEN
Medical training has become a global phenomenon, and the Physician's Charter (PC), as a missionary document, is key to training those outside the Global North. Undergraduate and postgraduate students in the medical profession are sometimes trained in contexts foreign to their social and ontological backgrounds. This might lead to confusion and blunders, creating an impression of what might look and feel unprofessional to those unfamiliar with the local context. Understanding the cultural backgrounds of the trainees is crucial, and the reverse is also as important. It is essential for clinicians and trainees to understand the cultural backgrounds of their patients to avoid miscommunication. In this phenomenological study, we recruited participants in 2020 who were in their first to fourth year of study of medical training during the #FeesMustFall protests. We used data from this extensive study looking at students' experiences during their training amidst protest and social upheavals in a South African tertiary institution. For this paper, we examined what professionalism means to the student participants using an African Ubuntu lens. Ubuntu and the Collective Finger theory were used to investigate what professionalism means to participants. The Ubuntu philosophy was compared to the PC. In the findings, the clinical space is hierarchical, silencing and the opposite of what Ubuntu means. In comparison to the PC, respect is overarching while compassion and responsibility are the most comparable to the Charter. This study adds an African voice to the professionalism discourse while showing African elements that could be aligned to the PC to challenge the current global discourses.
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Phenomenon: Professionalism as a construct is weaponized to police and punish those who do not fit the norm of what a medical professional should look like or behave, more so when medical professionals in training engage in protests for social justice. In addition, professionalism silences trainees, forcing them not to question anything that looks or feels wrong in their eyes. Socialization in medicine, in both the undergraduate and postgraduate training spaces, poses challenges for contemporary medical professionals who are expected to fit the shape of the 'right kind of doctor.' Intersectionality seems to impact how medical trainees experience professionalism, be it intersections of gender, race, how they dress or adorn themselves, how they carry themselves and who they identify as. Although there is literature on the challenges pertaining to professionalism, not much has been written about the weaponization of professionalism in medical training, particularly in the South African context. There is also a paucity of data on experiences of professionalism during or after social upheaval. Approach: This is part of a study that explored the experiences of professionalism of five medical trainees during protests and after protests, extending into their postgraduate training. The main study had 13 participants, eight students and five graduates, who were all interviewed in 2020, five years after the #FeesMustFall protests. For the five postgraduate participants, we looked at how gender, race, hairstyles, adornment, and protests played out in the experiences of professionalism as medical trainees at a South African university. We employed a qualitative phenomenological approach. An intersectional analytical lens was used in analyzing the transcripts of the five graduate participants. Each transcript was translated as the story of that participant. These stories were compared, looking for commonalities and differences in terms of their experiences. Findings: The participants, four males (three Black and one white) and one Black female, were victimized or judged based on their activism for social justice, gender, and race. They were made to feel that having African hairstyles or piercings was not professional. Insights: Society and the medical profession has a narrow view of what a doctor should look like and behave - it should not be someone who wears their hair in locks, has body piercing, or is an activist, least of all if she is a woman, as professionalism is used as a weapon against all these characteristics. Inclusivity should be the norm in medical education.
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During V(D)J recombination of immunoglobulin genes, p53 and nonhomologous end-joining (NHEJ) suppress aberrant rejoining of DNA double-strand breaks induced by recombinase-activating genes (Rags)-1/2, thus maintaining genomic stability and limiting malignant transformation during B-cell development. However, Rag deficiency does not prevent B-cell leukemogenesis in p53/NHEJ mutant mice, revealing that p53 and NHEJ also suppress Rag-independent mechanisms of B-cell leukemogenesis. Using several cytogenomic approaches, we identified a novel class of activating mutations in Fms-like tyrosine kinase 3 (Flt3), a receptor tyrosine kinase important for normal hematopoiesis in Rag/p53/NHEJ triple-mutant (TM) B-cell leukemias. These mutant Flt3 alleles were created by complex genomic rearrangements with Moloney leukemia virus (MuLV)-related endogenous retroviral (ERV) elements, generating ERV-Flt3 fusion genes encoding an N-terminally truncated mutant form of Flt3 (trFlt3) that was transcribed from ERV long terminal repeats. trFlt3 protein lacked most of the Flt3 extracellular domain and induced ligand-independent STAT5 phosphorylation and proliferation of hematopoietic progenitor cells. Furthermore, expression of trFlt3 in p53/NHEJ mutant hematopoietic progenitor cells promoted development of clinically aggressive B-cell leukemia. Thus, repetitive MuLV-related ERV sequences can participate in aberrant end-joining events that promote development of aggressive B-cell leukemia.
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Linfocitos B/citología , Leucemia/genética , Virus de la Leucemia Murina de Moloney/genética , Recombinación Genética , Tirosina Quinasa 3 Similar a fms/genética , Tirosina Quinasa 3 Similar a fms/metabolismo , Animales , Linfocitos B/patología , Proliferación Celular , Reparación del ADN por Unión de Extremidades/genética , Regulación Leucémica de la Expresión Génica , Células Madre Hematopoyéticas/citología , Leucemia/patología , Ratones , Virus de la Leucemia Murina de Moloney/metabolismo , Mutación , Fosforilación , Estructura Terciaria de Proteína , Factor de Transcripción STAT5/metabolismo , Transducción de Señal , Células Tumorales CultivadasRESUMEN
BACKGROUND: South African medical schools use the results of the National Senior Certificate (NSC) examination for selecting students. Five of the nine medical schools also use the National Benchmark Test (NBT). The University of the Witwatersrand weights the NSC and NBT results equally in the selection process. This study addresses the predictive validity of the NBT and NSC for academic success. The association between the NBT proficiency levels and students' progression outcomes was also investigated. METHODS: Data obtained from the University's Business Intelligence Services for 1652 first-year medical students from 2011 to 2017 were analysed using hierarchical regression models and chi-square tests. The three NBT domains and four of the NSC subjects were the independent variables in the regression models, with the first-year grade point average for students who passed the first year as the dependant variable. The NBT performance levels and first-year progression outcome (passed, failed, or cancelled) were used in the chi-square analysis. Frequency tables were used to describe the cohort's demographic details and NBT results. Crosstabs were used to analyse student performance according to the school quintile system. RESULTS: The three NBT domains explained 26% of the variance, which was statistically significant, R2 = 0.263, F (3, 1232) = 146.78, p < 0.000. When the NSC subjects (Life Sciences, English, Mathematics, and Physical Science) were added to the regression equation, they accounted for an additional 19% of the variance, R2 = 0.188, F (3, 1229) = 137.14, p < 0.000. All independent variables contributed 45% of the variance, R2 = 0.451, F (6, 1229) = 166.29, p < 0.000. A strong association between the NBT proficiency levels and first-year students' progression outcomes was observed. CONCLUSION: The NBT results, when weighted equally to the NSC results, explained more variance than the NSC alone in predicting academic success in the first year of the medical degree. The NBT should not only be used for selecting medical students but should also be used to place students with lower entry-level skills in appropriate foundation programmes and to identify students who are admitted to regular programmes who may need additional support.
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Éxito Académico , Prueba de Admisión Académica , Educación de Pregrado en Medicina , Criterios de Admisión Escolar , Femenino , Predicción , Humanos , Masculino , Valor Predictivo de las Pruebas , Estudios Retrospectivos , SudáfricaRESUMEN
Background and Purpose- Feasibility of utilizing the Stroke Riskometer App (App) to improve stroke awareness and modify stroke risk behaviors was assessed to inform a full randomized controlled trial. Methods- A parallel, open-label, 2-arm prospective, proof-of-concept pilot randomized controlled trial. Participants were randomized to usual care/control or App intervention group and assessed at baseline, 3, and 6 months. The App measures stroke risk and provides information on management of risk factors. Participants were aged >19 years with at least 2 modifiable stroke risk factors identified, no prior stroke, and owned a smartphone. Results- Fifty participants (24 control, 26 App) were recruited from 148 eligible participants. Retention in the trial was 87%. Mean cardiovascular health (Life's Simple 7) improved by 0.36 (95% CI, -2.10 to 1.38) in the App group compared with 0.01 (95% CI, -1.34 to 1.32) in controls (P=0.6733). Conclusions- These findings support a full randomized controlled trial to test the effectiveness of the Stroke Riskometer for primary stroke prevention. Clinical Trial Registration- URL: www.anzctr.org.au. Unique Identifier: ACTRN12616000376448.
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BACKGROUND: Doctor emigration from low- and middle-income countries represents a financial loss and threatens the equitable delivery of healthcare. In response to government imperatives to produce more health professionals to meet the country's needs, South African medical schools increased their student intake and changed their selection criteria, but little is known about the impact of these changes. This paper reports on the retention and distribution of doctors who graduated from the University of the Witwatersrand, South Africa (SA), between 2007 and 2011. METHODS: Data on 988 graduates were accessed from university databases. A cross-sectional descriptive email survey was used to gather information about graduates' demographics, work histories, and current work settings. Frequency and proportion counts and multiple logistic regressions of predictors of working in a rural area were conducted. Open-ended data were analysed using content analysis. RESULTS: The survey response rate was 51.8%. Foreign nationals were excluded from the analysis because of restrictions on them working in SA. Of 497 South African respondents, 60% had completed their vocational training in underserved areas. At the time of the study, 89% (444) worked as doctors in SA, 6.8% (34) practised medicine outside the country, and 3.8% (19) no longer practised medicine. Eighty percent of the 444 doctors still in SA worked in the public sector. Only 33 respondents (6.6%) worked in rural areas, of which 20 (60.6%) were Black. Almost half (47.7%) of the 497 doctors still in SA were in specialist training appointments. CONCLUSIONS: Most of the graduates were still in the country, with an overwhelmingly urban and public sector bias to their distribution. Most doctors in the public sector were still in specialist training at the time of the study and may move to the private sector or leave the country. Black graduates, who were preferentially selected in this graduate cohort, constituted the majority of the doctors practising in rural areas. The study confirms the importance of selecting students with rural backgrounds to provide doctors for underserved areas. The study provides a baseline for future tracking studies to inform the training of doctors for underserved areas.
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Emigración e Inmigración/estadística & datos numéricos , Disparidades en Atención de Salud/estadística & datos numéricos , Médicos/provisión & distribución , Ubicación de la Práctica Profesional/estadística & datos numéricos , Estudios Transversales , Países Desarrollados , Países en Desarrollo , Femenino , Humanos , Masculino , Médicos/estadística & datos numéricos , SudáfricaRESUMEN
Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and sensorineural hearing loss. Only seven cases have been reported in the English literature, and thus the information on the phenotype and genotype of this interesting condition is limited. We provide clinical and molecular information on five additional unrelated patients carrying novel bi-allelic variants in the DDX11 gene, identified via whole exome sequencing. One of the variants was found to be a novel Saudi founder variant. All identified variants were classified as pathogenic or likely pathogenic except for one that was initially classified as a variant of unknown significance (VOUS) (p.Arg378Pro). Functional characterization of this VOUS using heterologous expression of wild type and mutant DDX11 revealed a marked effect on protein stability, thus confirming pathogenicity of this variant. The phenotypic data of the seven WBS reported patients were compared to our patients for further phenotypic delineation. Although all the reported patients had cochlear hypoplasia, one patient also had posterior labyrinthine anomaly. We conclude that while the cardinal clinical features in WBS (microcephaly, growth retardation, and cochlear anomalies) are almost universally present, the breakage phenotype is highly variable and can be absent in some cases. This report further expands the knowledge of the phenotypic and molecular features of WBS.
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Anomalías Múltiples/genética , Rotura Cromosómica , Secuencia de Aminoácidos , Niño , Preescolar , ARN Helicasas DEAD-box/química , ARN Helicasas DEAD-box/genética , ADN Helicasas/química , ADN Helicasas/genética , Oído Interno/diagnóstico por imagen , Facies , Femenino , Regulación de la Expresión Génica , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Modelos Moleculares , Fenotipo , Inhibidores de Proteasoma/farmacología , Estabilidad Proteica , Síndrome , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS: Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant. RESULTS: Whole genome sequencing of the first 56 participants identified 207 662 805 sequence variants and 27 494 copy number variations. We analyzed a prioritized disease-associated data set (n = 1606 variants) according to standardized guidelines, and interpreted 19 variants in 14 participants (25%) as having obvious health implications. Six of these variants (e.g., in BRCA1 or mosaic loss of an X chromosome) were pathogenic or likely pathogenic. Seven were risk factors for cancer, cardiovascular or neurobehavioural conditions. Four other variants - associated with cancer, cardiac or neurodegenerative phenotypes - remained of uncertain significance because of discrepancies among databases. We also identified a large structural chromosome aberration and a likely pathogenic mitochondrial variant. There were 172 recessive disease alleles (e.g., 5 individuals carried mutations for cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual. INTERPRETATION: Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically relevant findings. Although access is mostly limited to research, whole genome sequencing can provide specific and novel information with the potential of major impact for health care.
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Variación Genética/genética , Genoma Humano/genética , Análisis de Secuencia de ADN/métodos , Secuenciación Completa del Genoma/métodos , Canadá , Femenino , Genes Recesivos/genética , Predisposición Genética a la Enfermedad/genética , Humanos , MasculinoRESUMEN
Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from different sources has been used to identify SNPs and intermediate-sized variants (ISVs). However, only a small proportion of total heterogeneity is characterized, and little is known of the characteristics of most smaller-sized (<50 kb) variants. Here we show that genome assembly comparison is a robust approach for identification of all classes of genetic variation. Through comparison of two human assemblies (Celera's R27c compilation and the Build 35 reference sequence), we identified megabases of sequence (in the form of 13,534 putative non-SNP events) that were absent, inverted or polymorphic in one assembly. Database comparison and laboratory experimentation further demonstrated overlap or validation for 240 variable regions and confirmed >1.5 million SNPs. Some differences were simple insertions and deletions, but in regions containing CNVs, segmental duplication and repetitive DNA, they were more complex. Our results uncover substantial undescribed variation in humans, highlighting the need for comprehensive annotation strategies to fully interpret genome scanning and personalized sequencing projects.
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Variación Genética , Genoma Humano , Secuencia de Bases , ADN/genética , Genómica , Humanos , Hibridación Fluorescente in Situ , Reacción en Cadena de la Polimerasa , Alineación de SecuenciaRESUMEN
In 1990, Congress passed the Breast and Cervical Cancer Mortality Prevention Act because of increases in the number of low-income and uninsured women being diagnosed with breast cancer. This act authorized the Centers for Disease Control and Prevention (CDC) to establish the National Breast and Cervical Cancer Early Detection Program (NBCCEDP) to provide high-quality and timely breast and cervical cancer screening and diagnostic services to low-income, uninsured women. The program started in 1991, and, in 1993, Congress amended the act to allow the CDC to fund American Indian and Alaska Native tribes and tribal organizations. By 1996, the program was providing cancer screening across the United States. To ensure appropriate delivery and monitoring of services, the program adopted detailed policies on program management, evidence-based guidelines for clinical services, a systematized clinical data system to track service quality, and key partnerships that expand the program's reach. The NBCCEDP currently funds 67 programs, including all 50 states, the District of Columbia, 5 US territories, and 11 tribes or tribal organizations.
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Neoplasias de la Mama/diagnóstico , Detección Precoz del Cáncer/métodos , Tamizaje Masivo/organización & administración , Neoplasias del Cuello Uterino/diagnóstico , Femenino , Política de Salud , Humanos , Tamizaje Masivo/métodos , Estados UnidosRESUMEN
Qualitative health care research can provide insights into health care practices that quantitative studies cannot. However, the potential of qualitative research to improve health care is undermined by reporting that does not explain or justify the research questions and design. The vital role of research frameworks for designing and conducting quality research is widely accepted, but despite many articles and books on the topic, confusion persists about what constitutes an adequate underpinning framework, what to call it, and how to use one. This editorial clarifies some of the terminology and reinforces why research frameworks are essential for good-quality reporting of all research, especially qualitative research.
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BACKGROUND: Learning portfolios (LPs) provide evidence of workplace-based assessments (WPBAs) in clinical settings. The educational impact of LPs has been explored in high-income countries, but the use of portfolios and the types of assessments used for and of learning have not been adequately researched in sub-Saharan Africa. This study investigated the evidence of learning in registrars' LPs and the influence of the training district and year of training on assessments. METHODS: A cross-sectional study evaluated 18 Family Medicine registrars' portfolios from study years 1-3 across five decentralised training sites affiliated with the University of the Witwatersrand. Descriptive statistics were calculated for the portfolio and quarterly assessment (QA) scores and self-reported clinical skills competence levels. The competence levels obtained from the portfolios and university records served as proxy measures for registrars' knowledge and skills. RESULTS: The total LP median scores ranged from 59.9 to 81.0, and QAs median scores from 61.4 to 67.3 across training years. The total LP median scores ranged from 62.1 to 83.5 and 62.0 to 67.5, respectively in QAs across training districts. Registrars' competence levels across skill sets did not meet the required standards. Higher skills competence levels were reported in the women's health, child health, emergency care, clinical administration and teaching and learning domains. CONCLUSION: The training district and training year influence workplace-based assessment (WPBA) effectiveness. Ongoing faculty development and registrar support are essential for WPBA.Contribution: This study contributes to the ongoing discussion of how to utilise WPBA in resource-constrained sub-Saharan settings.
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Competencia Clínica , Evaluación Educacional , Medicina Familiar y Comunitaria , Lugar de Trabajo , Humanos , Estudios Transversales , Medicina Familiar y Comunitaria/educación , Evaluación Educacional/métodos , Femenino , Masculino , Sudáfrica , Aprendizaje , AdultoRESUMEN
BACKGROUND: Workplace-based learning (WBL) provides authentic learning opportunities to develop fit-for-practice healthcare workers. Different types of WBL opportunities have been described in high-income countries, but the opportunities in the district health systems of sub-Saharan Africa have not been characterised. AIM: This study explored family physicians' (FPs) and registrars' perceptions of WBL opportunities in a decentralised postgraduate family medicine registrar training programme. SETTING: The study was conducted at five decentralised training sites across two provinces affiliated with the University of the Witwatersrand in South Africa. METHODS: This instrumental case study involved semi-structured qualitative interviews with 11 FPs and 11 registrars purposively sampled across the training sites. The verbatim transcripts were thematically analysed using Braun and Clark's six-step approach. RESULTS: Workplace-based learning opportunities were grouped into four themes: Learning from interpersonal interactions, learning from district activities, self-directed learning and contextual influences on learning opportunities. Registrars learnt from patients, peers, FPs and other professionals. Feedback, self-reflection, portfolio use, involvement in various district events, such as student and staff teaching, and continuous medical education augmented learning. Contextual influences originated from health facilities, resource availability, district management and university support, excessive workload and a need for standardised district learning opportunities. CONCLUSION: Registrars are exposed to several types of WBL opportunities in district health systems. Effective engagement with available opportunities and addressing contextual challenges could enhance registrar learning.Contribution: Maximising learning opportunities to promote registrars' acquisition of required skills and competencies to efficiently address community needs in a middle-income country such as South Africa.
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Competencia Clínica , Medicina Familiar y Comunitaria , Humanos , Medicina Familiar y Comunitaria/educación , Sudáfrica , Médicos de Familia/educación , Lugar de TrabajoRESUMEN
Retroperitoneal lumbar hernias are a rare entity. Atraumatic posterior perirenal hernias are an exceptionally rare form of retroperitoneal lumbar hernias. Because of their infrequency, there are no standardized methods of surgical care for the treatment of atraumatic (primary spontaneous) posterior perirenal hernias. This report documents the finding and management of an atraumatic posterior perirenal lumbar hernia in a 69-year-old female.
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Nuisance and medically important ticks can be abundant in a variety of forested landscapes, including recreational parks. Strategies to reduce the abundance of host-seeking ticks in high-use areas within parks are limited. Mowing vegetation is a recommended method to control ticks, but few studies have evaluated the efficacy of this practice. The goal of this study was to determine if a single mowing event could reduce the abundance of host-seeking ticks on recreational trails. Ticks were collected by dragging trails at three recreational parks in northern Minnesota during June and July, 2021. A pre-intervention sample was taken followed by six consecutive weeks of tick sampling. We encountered a total of 3,456 ticks (2,459 Ixodes scapularis Say and 997 Dermacentor variabilis L.) during the 7-week study period. There were no significant differences in the abundance of I. scapularis (adults) or D. variabilis (adults only) between control and mown trail sections. Mowing was a significant predictor of nymphal I. scapularis abundance but trended towards more ticks in mown sections compared to controls. These results suggest that a single mowing intervention during early June is likely to be ineffective as a strategy to reduce the risk of human contacts with ticks on trails.
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Dermacentor , Ixodes , Ixodidae , Humanos , Animales , NinfaRESUMEN
In BCR-ABL1 lymphoblastic leukemia, treatment heterogeneity to tyrosine kinase inhibitors (TKIs), especially in the absence of kinase domain mutations in BCR-ABL1, is poorly understood. Through deep molecular profiling, we uncovered three transcriptomic subtypes of BCR-ABL1 lymphoblastic leukemia, each representing a maturation arrest at a stage of B-cell progenitor differentiation. An earlier arrest was associated with lineage promiscuity, treatment refractoriness and poor patient outcomes. A later arrest was associated with lineage fidelity, durable leukemia remissions and improved patient outcomes. Each maturation arrest was marked by specific genomic events that control different transition points in B-cell development. Interestingly, these events were absent in BCR-ABL1+ preleukemic stem cells isolated from patients regardless of subtype, which supports that transcriptomic phenotypes are determined downstream of the leukemia-initialing event. Overall, our data indicate that treatment response and TKI efficacy are unexpected outcomes of the differentiation stage at which this leukemia transforms.
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Proteínas de Fusión bcr-abl , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Proteínas de Fusión bcr-abl/genética , Proteínas de Fusión bcr-abl/metabolismo , Transcriptoma/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Perfilación de la Expresión Génica , Diferenciación Celular/genética , Inhibidores de Proteínas Quinasas/farmacología , Inhibidores de Proteínas Quinasas/uso terapéuticoRESUMEN
BACKGROUND: There are four known pericentromeric euchromatic variants of chromosome 9 in the literature that are increasingly being observed in diagnostic cytogenetic laboratories. These variants pose diagnostic and counselling dilemmas, especially in prenatal settings, as distinction of a pathogenic alteration from a euchromatic variant is difficult. The molecular characterisation of three of these four variants has been reported. In this study, the genomic structure of the fourth variant, an additional G-positive band at 9q13-q21, is characterised. METHODS: Two unrelated families with the 9q13-q21 duplication variant, and a third individual with a cytogenetically visible 9q13-q21 deletion, were studied using conventional and molecular cytogenetics techniques, as well as microarrays. The highly repetitive nature of the segmental duplications in the region also necessitated the use of both interphase and metaphase fluorescence in situ hybridisation (FISH). RESULTS: It was determined that the DNA that constitutes this variant was â¼ 15-20 megabases in size and tandemly repeated as 3-4 cassettes of intrachromosomal segmental duplication. The variant appeared constitutively similar in sequence content and organisation between the two unrelated individuals, and it was inherited without apparent change. Sequences found amplified in the two duplication carriers were absent in the carrier of the deletion variant. CONCLUSIONS: The sequences involved in both the 9q13-q21 duplication and deletion appear the same, implying reciprocity and suggesting non-allelic homologous recombination as the underlying mechanism. All four known euchromatic variants of chromosome 9 have now been shown to encompass segmental duplications. Importantly, a set of validated FISH probes was defined for the detection and characterisation of this 9q13-q21 amplification in the context of other chromosome 9 variants, allowing apparently benign variants to be distinguished from pathogenic changes.
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Deleción Cromosómica , Duplicación Cromosómica/genética , Cromosomas Humanos Par 9/genética , Amplificación de Genes/genética , Adulto , Variaciones en el Número de Copia de ADN/genética , Feto , Humanos , Hibridación Fluorescente in Situ , Análisis por MicromatricesRESUMEN
BACKGROUND: Postgraduate supervision forms a vital component of decentralised family medicine training. While the components of effective supervisory feedback have been explored in high-income countries, how this construct is delivered in resource-constrained low- to middle-income countries has not been investigated adequately. AIM: This article evaluated supervisory feedback in family medicine registrars' learning portfolios (LPs) as captured in their learning plans and mini-Clinical Evaluation Exercise (mini-CEX) forms and whether the training district or the year of training affected the nature of the feedback. SETTING: Registrars' LPs from 2020 across five decentralised sites affiliated with the University of the Witwatersrand in South Africa were analysed. METHODS: Two modified tools were used to evaluate the quantity of the written feedback in 38 learning plans and 57 mini-CEX forms. Descriptive statistics, Fisher's exact and Wilcoxon rank-sum tests were used for analysis. Content analysis was used to derive counts of areas of feedback. RESULTS: Most learning plans (61.2%) did not refer to registrars' clinical knowledge or offer an improvement strategy (86.1%). The 'extent of supervisors' feedback' was rated as 'poor' (63.2%), with only 14.0% rated as 'good.' The 'some' and 'no' feedback categories in the mini-CEX competencies (p 0.001 to p = 0.014) and the 'extent of supervisors' feedback' (p 0.001) were significantly associated with training district. Feedback focused less on clinical reasoning and negotiation skills. CONCLUSION: Supervisors should provide specific and constructive narrative feedback and an action plan to improve registrars' future performance.Contribution: Supervisory feedback in postgraduate family medicine training needs overall improvement to develop skilled family physicians.
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Medicina Familiar y Comunitaria , Lipopolisacáridos , Humanos , Medicina Familiar y Comunitaria/educación , Retroalimentación , Aprendizaje , Médicos de Familia/educación , Competencia ClínicaRESUMEN
BACKGROUND: Clinical training is one of the roles of family physicians (FPs) in decentralised postgraduate training. Effective training requires skilled trainers and sufficient resources. Little is known about the resources available for decentralised clinical training in district health systems in low- to middle-income countries, especially in sub-Saharan Africa. AIM: To explore FPs' and registrars' perceptions of the available resources in a decentralised postgraduate family medicine (FM) training programme. SETTING: Five decentralised training sites affiliated with the University of the Witwatersrand across two provinces in South Africa. METHODS: This qualitative study forms part of a broader project evaluating a FM registrar training programme using the logic model. Semistructured interviews were conducted with a purposive sample of 11 FPs and 11 registrars. The interviews were transcribed verbatim and analysed thematically. RESULTS: Three themes were identified: 'Impact of resource constraints', 'Family physicians' skills and knowledge could be further improved' and 'Family physicians need additional support to optimise their training role'. The additional resources needed include more FPs, equipment, infrastructure and funding. Knowledge and skills of FPs were reported variable and needed further improvement. Additional support was required from peers, the district management and the university. CONCLUSION: Well-resourced decentralised training environments with sufficient skilled trainers and adequate resources are needed to positively influence FP training and supervision, especially in middle-income countries like South Africa.Contribution: Clinical trainers need adequate resources and support from peers, district management and the university for effective decentralised clinical training.