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BACKGROUND: Health care organizations are considered complex systems that represent both formal leadership as well as more informal and shared leadership models. Implementing these models is essential for optimizing care and patient outcomes. The paramedic profession specifically, although considered informally, leads out of hospital patient care. PURPOSE: To date, few empirical studies investigate shared leadership in health care settings. In paramedicine specifically, studies of leadership are scarce, despite paramedics' essential role in leading on the front lines of care. Using an exemplar of paramedics, we examine what it means to informally lead on the front lines of patient care with the emphasis on paramedics responding out of hospital. METHODOLOGY: We employed a qualitative, semistructured interview methodology with 29 paramedics from a group of companies in central/eastern Canada to explore the conditions and practices surrounding shared leadership. FINDINGS: Paramedics argue that, despite their job title, they classify themselves as informal leaders who share the leadership role. More specifically, the paramedics discuss the precursors, practices, and structural conditions surrounding shared leadership within the realm of emergency medical services. They note that they often face out-of-hospital care without a formal manager, requiring them to collectively lead. The leader will shift in times of urgency, and this is contingent on their skills and competence. Furthermore, managers routinely called upon paramedics to lead in their absence. PRACTICE IMPLICATIONS: It is shown here that, although informally enacted, paramedics view leadership as a necessary competency for clinical practice. We argue that leadership development of paramedics must begin during their formal education and training as part of the core curriculum. As well, direct managers can promote an environment of shared leadership and encourage paramedics to practice leadership with quality of patient service in mind.
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Técnicos Medios en Salud/estadística & datos numéricos , Conducta Cooperativa , Servicios Médicos de Urgencia/organización & administración , Liderazgo , Canadá , Competencia Clínica , Femenino , Teoría Fundamentada , Humanos , Entrevistas como Asunto , Masculino , Investigación CualitativaRESUMEN
OBJECTIVE: This study examined healthcare managers' perceptions of flexible working arrangements and implementation barriers. BACKGROUND: Work-life conflict can lead to negative health implications, but flexible working arrangements can help manage this conflict. Little research has examined its implementation in 24/7/365 healthcare organizations or within groups of employees working 9 AM to 5 PM (9-5) versus shift-work hours. METHODS: Questionnaires regarding perceptions to, benefits of, and barriers against flexible working arrangements were administered to managers of 9-5 workers and shift workers in an Atlantic Canadian healthcare organization. RESULTS: Few differences in perceptions and benefits of flexible working arrangements were found between management groups. However, results indicate that the interaction with patients and/or the immediacy of tasks being performed are barriers for shift-work managers. CONCLUSIONS: The nature of healthcare presents barriers for managers implementing flexible working arrangements, which differ only based on whether the job is physical (shift work) versus desk related (9-5 work).
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Personal de Salud , Enfermeras Administradoras , Admisión y Programación de Personal , Encuestas y Cuestionarios , Tolerancia al Trabajo ProgramadoRESUMEN
Alveolar rhabdomyosarcoma (ARMS) is characterized by one of three translocation states: t(2;13) (q35;q14) producing PAX3-FOXO1, t(1;13) (p36;q14) producing PAX7-FOXO1, or translocation-negative. Tumors with t(2;13) are associated with greater disease severity and mortality than t(1;13) positive or translocation negative patients. Consistent with this fact, previous work concluded that a molecular analysis of RMS translocation status is essential for the accurate determination of prognosis and diagnosis. However, despite this knowledge, most diagnoses rely on histology and in some cases utilize fluorescence in situ hybridization (FISH) probes unable to differentiate between translocation products. Along these same lines, diagnostic RT-PCR analysis, which can differentiate translocation status, is unable to determine intratumoral translocation heterogeneity, making it difficult to determine if heterogeneity exists and whether correlations exist between this heterogeneity and patient outcomes. Using newly developed FISH probes, we demonstrate that intratumoral heterogeneity exists in ARMS tumors with respect to the presence or absence of the translocation product. We found between 3 and 98% of cells within individual tumor samples contained a translocation event with a significant inverse correlation (R 2 = 0.66, p = 0.001) between the extent of intratumoral translocation heterogeneity and failure-free survival of patients. Taken together, these results provide additional support for the inclusion of the molecular analysis of these tumors and expand on this idea to support determining the extent of intratumoral translocation heterogeneity in the diagnosis of ARMS to improve diagnostic and prognostic indicators for patients with these tumors.
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The most frequent chromosomal rearrangement reported in acute promyelocytic leukemia (APL) is t(15; 17) (q22; q21). The t(15; 17) generates the PML/RARA fusion gene that blocks the transcription of genes involved in myeloid cell differentiation. A small number of simple and complex variants of the classical t(15; 17) have been reported. We report two complex three-way translocation variants, t(3; 17; 15) (q27; q21; q22) and t(8; 17; 15) (q24.3; q12; q22) in which the PML/RARA fusion gene has been created on the derivative 15 chromosomes. Many of these variant translocations are suspected by conventional cytogenetics but need to be confirmed with additional molecular testing. We discuss the importance of supplementing conventional cytogenetic testing with FISH and RT-PCR to accurately diagnose APL variant patients.
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Leucemia Promielocítica Aguda/genética , Proteínas de Fusión Oncogénica/genética , Translocación Genética , Anciano , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 3 , Cromosomas Humanos Par 8 , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Patients with an apparently balanced translocation and an abnormal phenotype may carry a cryptic deletion/duplication at their translocation breakpoints that may explain their abnormalities. Using microarray CGH (aCGH) and gene expression arrays we studied a child with t(15;22)(q26.1;q11.2), developmental delay and mild dysmorphic features. A high density aCGH study with 244,000 oligo probes demonstrated a 3.3 Mb deletion immediately adjacent to the 15q breakpoint. Gene expression studies with 44,000 oligos displayed an approximately 50% reduction of the expression of IGF1R gene that was translocated to the der(22). There are 18 known or hypothetical protein coding genes within the deleted region according to UniProt, RefSeq, and GenBank mRNA (UCSC HG17, May 2004). Although two of these genes, RGMA and ST8SIA2, play an important role in neural development, the mild phenotype of our patient indicates that loss of one copy of these genes may not be critical developmentally. The 50% reduction of IGF1R expression could be responsible for the growth deficiency in the patient. Reviewing the few 15q26 microdeletion cases that have been characterized by aCGH, we discovered that deletion of the segment including distal 15q26.2 to the proximal part of 15q26.3 is associated with severe phenotypes. Our experience demonstrates that high-density oligonucleotide-based aCGH is a quick and precise way to identify cryptic copy number changes in "balanced translocations." Expression studies can also add valuable information regarding gene expression changes due to a chromosomal rearrangement. Both approaches can assist in the elucidation of the etiology of unexplained phenotypic differences in cases such as this one.
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Cromosomas Humanos Par 15/genética , Cromosomas Humanos Par 22/genética , Perfilación de la Expresión Génica , Análisis de Secuencia por Matrices de Oligonucleótidos , Eliminación de Secuencia , Translocación Genética , Secuencia de Bases , Preescolar , Análisis Citogenético , Discapacidades del Desarrollo/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , MasculinoRESUMEN
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss. PURPOSE: Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss. RESEARCH DESIGN: This is a case report of a patient with XP subtype D, type 1 diabetes, and some clinical features typical of Charcot-Marie-Tooth disease. DATA COLLECTION AND ANALYSIS: We obtained audiological evaluations over a course of 11 yr, including serial audiograms, auditory processing disorders evaluations, and electrophysiological testing. RESULTS: Hearing sensitivity has progressed from a unilateral mild high-frequency sensorineural hearing loss to a bilateral sloping moderate to severe/profound sensorineural hearing loss. In addition to the dramatic decline in hearing sensitivity, the patient demonstrates global auditory processing deficits, indicating a central component to his hearing loss. CONCLUSION: These findings emphasize the importance of the contribution of audiological evaluations to the diagnosis of a genetic disorder. Periodic evaluations of hearing sensitivity and auditory processing can provide information on disease progression in patients with XP with neural degeneration.
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Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/etiología , Xerodermia Pigmentosa/complicaciones , Adolescente , Enfermedad de Charcot-Marie-Tooth/complicaciones , Diabetes Mellitus Tipo 1/complicaciones , Humanos , MasculinoRESUMEN
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient's family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.
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PURPOSE: This tutorial provides information to aid audiologists in determining when a referral for a genetics evaluation is appropriate for a patient with hearing loss. Direction is given on discussing the benefits and limitations of genetic testing with parents of children with hearing loss. METHOD: Genetic patterns of inheritance are reviewed, particularly in reference to syndromic and nonsyndromic forms of hearing loss. A review of pertinent literature was performed. CONCLUSION: Audiologists are in a unique position to facilitate investigation into the etiology of a patient's hearing loss. This is of high importance in genetic etiologies because the diagnosis can provide information on recurrence risks and other potential health implications. Suggestions are made to help audiologists recognize when a genetics referral is warranted, counsel patients and their parents about the benefits and limitations of genetic testing, and interpret genetic test results.
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Audiología , Pruebas Genéticas , Pérdida Auditiva/genética , Guías de Práctica Clínica como Asunto , Derivación y Consulta , Conexina 26/genética , Conexinas/genética , Humanos , SíndromeRESUMEN
Leukemia- and lymphoma-associated (LLA) chromosomal rearrangements are critical in the process of tumorigenesis. These genetic alterations are also important biological markers in the diagnosis, prognosis, and treatment of hematopoietic malignant diseases. To detect the presence or absence of these genetic alterations in healthy individuals, sensitive nested RT-PCR analyses were performed on a large number of peripheral blood samples for selected markers including MLL partial tandem duplications (PTDs), BCR-ABL p190, BCR-ABL p210, MLL-AF4, AML1-ETO, PML-RARA, and CBFB-MYH11. Using nested RT-PCR, the presence of all of these selected markers was detected in healthy individuals at various prevalence rates. No correlation was observed between incidence and age except for BCR-ABL p210 fusion, the incidence of which rises with increasing age. In addition, nested RT-PCR was performed on a large cohort of umbilical cord blood samples for MLL PTD, BCR-ABL p190 and BCR-ABL p210. The results demonstrated the presence of these aberrations in cord blood from healthy neonates. To our knowledge, the presence of PML-RARA and CBFB-MYH11 in healthy individuals has not been previously described. The present study provides further evidence for the presence of LLA genetic alterations in healthy individuals and suggests that these mutations are not themselves sufficient for malignant transformation.