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1.
JIMD Rep ; 64(6): 434-439, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37927486

RESUMEN

Arginase deficiency (ARG1-D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1-D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may evade diagnosis and require a thoughtful diagnostic workup. Here, we discuss three females of Latin American origin with differing clinical presentations, but who all have the same intronic pathogenic variant in ARG1. Importantly, we found that each case included elevated coagulopathy on laboratory testing and discussed one case in particular with manifestation of bleeding. When diagnosed early, treatment is favorable and can prevent progressive decline. While many states have added ARG1-D to their expanded newborn screening panels, still many states and countries do not screen for ARG1-D, and it can be missed in a healthy newborn. We aim to bring awareness to not only the classic presentation as a necessary consideration for otherwise unexplained spastic diplegia but also to the varied presentations of ARG1-D.

2.
Nurs Forum ; 57(6): 1390-1398, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36347533

RESUMEN

AIMS: This study assessed the feasibility of delivering three good things (3GTs) practice as part of professional nurse residency program, measured the degree to which it influenced work-life balance, resilience, and burnout, and explored what newly licensed nurses (NLRNs) identified as good things. BACKGROUND: Burnout occurs in response to chronic work-related emotional and interpersonal stress, negatively impacting nurses and patients. However, research shows that 3GT practice can increase positive emotions, enhance resilience, and reduce burnout. METHODS: In this study, 3GT was introduced to a convenience sample of 115 NLRNs during their professional residency program. For 14 days, participants received daily 3GT prompts. Individualized survey links were sent via SMS message at baseline, postsurvey (T1), and 6 months (T2). Survey data were collected about work-life balance, burnout, and resilience, and text data from participants' daily 3GT notations from March through November 2021. RESULTS: Seventy-one participants were recruited. T1 survey results indicated significant improvements in survey measures but only emotional recovery improvement was sustained at T2. Burnout was the only variable that correlated to participants' number of 3GT days practice. Simple joys, reflections about work, self-care activities, and relationships were major identified themes. CONCLUSIONS: The results demonstrate the generalizability, value, and feasibility of implementing a web-based 3GT intervention in a nurse residency program. Additional benefits may be those gained by the reflection that is prompted, thereby facilitating professional development among NLRNs.


Asunto(s)
Agotamiento Profesional , Internado y Residencia , Enfermeras y Enfermeros , Equilibrio entre Vida Personal y Laboral , Humanos , Agotamiento Profesional/prevención & control , Internado y Residencia/organización & administración , Autocuidado , Encuestas y Cuestionarios , Enfermeras y Enfermeros/psicología , Educación de Postgrado en Enfermería , Resiliencia Psicológica , Estudios de Factibilidad , Investigación en Educación de Enfermería
3.
Semin Cancer Biol ; 65: 99-113, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-31877341

RESUMEN

Cancer undergoes "immune editing" to evade destruction by cells of the host immune system including natural killer (NK) cells and cytotoxic T lymphocytes (CTLs). Current adoptive cellular immune therapies include CAR T cells and dendritic cell vaccines, strategies that have yet to show success for a wide range of tumors. Cancer resistance to immune therapy is driven by extrinsic factors and tumor cell intrinsic factors that contribute to immune evasion. These extrinsic factors include immunosuppressive cell populations such as regulatory T cells (Tregs), tumor-associated macrophages (TAMS), and myeloid-derived suppressor cells (MDSCs). These cells produce and secrete immunosuppressive factors and express inhibitory ligands that interact with receptors on T cells including PD-1 and CTLA-4. Immune checkpoint blockade (ICB) therapies such as anti-PD-1 and anti-CTLA-4 have shown success by increasing immune activation to eradicate cancer, though both primary and acquired resistance remain a problem. Tumor cell intrinsic factors driving primary and acquired resistance to these immune therapies include genetic and epigenetic mechanisms. Epigenetic therapies for cancer including DNA methyltransferase inhibitors (DNMTi), histone deacetylase inhibitors (HDACi), and histone methyltransferase inhibitors (HMTi) can stimulate anti-tumor immunity in both tumor cells and host immune cells. Here we discuss in detail tumor mechanisms of immune evasion and how common epigenetic therapies for cancer may be used to reverse immune evasion. Lastly, we summarize current clinical trials combining epigenetic therapies with immune therapies to reverse cancer immune resistance mechanisms.


Asunto(s)
Antígeno CTLA-4/antagonistas & inhibidores , Resistencia a Antineoplásicos/inmunología , Neoplasias/terapia , Microambiente Tumoral/inmunología , Antígeno CTLA-4/inmunología , Epigénesis Genética , Humanos , Inmunoterapia/efectos adversos , Células Asesinas Naturales/inmunología , Células Supresoras de Origen Mieloide/inmunología , Neoplasias/inmunología , Linfocitos T Citotóxicos/inmunología , Escape del Tumor/inmunología , Microambiente Tumoral/efectos de los fármacos
4.
J Nurs Manag ; 27(4): 681-687, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30449038

RESUMEN

AIM: To identify nurse leaders' strategies to cultivate nurse resilience. BACKGROUND: High nursing turnover rates and nursing shortages are prominent phenomena in health care. Finding ways to promote nurse resilience and reduce nurse burnout is imperative for nursing leaders. METHODS: This is a qualitative descriptive study that occurred from November 2017 to June 2018. This study explored strategies to foster nurse resilience from nurse leaders who in this study were defined as charge nurses, nurse managers and nurse executives of a tertiary hospital in the United States. A purposive sampling method was used to have recruited 20 nurse leaders. RESULTS: Seven strategies are identified to cultivate nurse resilience: facilitating social connections, promoting positivity, capitalizing on nurses' strengths, nurturing nurses' growth, encouraging nurses' self-care, fostering mindfulness practice and conveying altruism. CONCLUSIONS: Fostering nurse resilience is an ongoing effort. Nurse leaders are instrumental in building a resilient nursing workforce. The strategies identified to foster nurse resilience will not only impact the nursing staff but also improve patient outcomes. IMPLICATIONS FOR NURSING MANAGEMENT: The strategies presented are simple and can be easily implemented in any settings. Nurse leaders have an obligation to model and enable evidence-based strategies to promote nurses' resilience.


Asunto(s)
Promoción de la Salud/métodos , Enfermeras Administradoras/tendencias , Enfermeras y Enfermeros/psicología , Resiliencia Psicológica , Adulto , Agotamiento Profesional/prevención & control , Agotamiento Profesional/psicología , Femenino , Promoción de la Salud/tendencias , Humanos , Satisfacción en el Trabajo , Liderazgo , Masculino , Persona de Mediana Edad , Enfermeras Administradoras/psicología , Enfermeras y Enfermeros/estadística & datos numéricos , Investigación Cualitativa , Autocuidado/métodos , Autocuidado/psicología
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