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1.
PLoS One ; 19(7): e0304240, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38968312

RESUMEN

BACKGROUND: Half of the world's children experience violence every year, but the meaning of violence is not universally agreed. We may therefore risk failing to measure, and address, the acts that matter most to children and adolescents. In this paper, we describe and synthesise evidence on how children and adolescents in sub-Saharan Africa conceptualise different behavioural acts which are deemed violence in childhood under WHO and UN CRC definitions. METHODS AND FINDINGS: We conducted a systematic review of qualitative studies. We searched PsychINFO, CINAHL, Embase, Global Health, Medline and ERIC for all publications released prior to March 2023. 30 papers met inclusion criteria. We synthesised primary data from children and adolescents and drew upon theoretical and contextual interpretations of authors of included studies. Only 12 of more than 45 sub-Saharan African countries were represented with relevant research. Of the 30 included papers, 25 came from three countries: South Africa, Uganda and Ghana. Only 10 of 30 papers reported data from young children (pre-adolescence), and 18 of 30 papers primarily focused on sexual violence. 14 studies used child friendly and/or participatory methods. From this limited evidence, we identified six overarching themes in how children and adolescents conceptualised their experiences of acts internationally recognised as violence: 1) adults abusing or neglecting responsibility; 2) sexual violence from peers, family and community members; 3) violence in established intimate relationships; 4) emotional violence surrounding sex from peers and community members; 5) fighting and beating between peers; 6) street and community dangers. No studies meeting our inclusion criteria specifically examined children or adolescents' conceptualisations of homophobic or transphobic violence; violence against children with disabilities; boys' experiences of sexual violence from male perpetrators; trafficking, modern slavery or conflict; child labour; or female genital mutilation. We found that three dimensions were important in how children and adolescents constructed conceptualisations of violence: their age, relationship to the perpetrator, and the physical location of acts they had experienced. These dimensions were interrelated and gendered. CONCLUSION: The current limited evidence base suggests children and adolescents' conceptualisations of violence overlapped with, but were also distinct from, the WHO and UNCRC definitions of violence. Currently international survey tools focus on measuring types and frequencies of particular acts and neglect to focus on children's understandings of those acts. Relationship to perpetrator, age of child, physical location are all important in how children conceptualise their experiences of acts internationally recognised as violence, and therefore might be important for their health and social outcomes. Those developing measures should account for these dimensions when developing items for testing.


Asunto(s)
Investigación Cualitativa , Violencia , Humanos , Adolescente , África del Sur del Sahara/epidemiología , Niño , Violencia/psicología , Femenino , Masculino
2.
J Thorac Oncol ; 2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38762120

RESUMEN

INTRODUCTION: Electronic nose (E-nose) technology has reported excellent sensitivity and specificity in the setting of lung cancer screening. However, the performance of E-nose specifically for early-stage tumors remains unclear. Therefore, the aim of our study was to assess the diagnostic performance of E-nose technology in clinical stage I lung cancer. METHODS: This phase IIc trial (NCT04734145) included patients diagnosed with a single greater than or equal to 50% solid stage I nodule. Exhalates were prospectively collected from January 2020 to August 2023. Blinded bioengineers analyzed the exhalates, using E-nose technology to determine the probability of malignancy. Patients were stratified into three risk groups (low-risk, [<0.2]; moderate-risk, [≥0.2-0.7]; high-risk, [≥0.7]). The primary outcome was the diagnostic performance of E-nose versus histopathology (accuracy and F1 score). The secondary outcome was the clinical performance of the E-nose versus clinicoradiological prediction models. RESULTS: Based on the predefined cutoff (<0.20), E-nose agreed with histopathologic results in 86% of cases, achieving an F1 score of 92.5%, based on 86 true positives, two false negatives, and 12 false positives (n = 100). E-nose would refer fewer patients with malignant nodules to observation (low-risk: 2 versus 9 and 11, respectively; p = 0.028 and p = 0.011) than would the Swensen and Brock models and more patients with malignant nodules to treatment without biopsy (high-risk: 27 versus 19 and 6, respectively; p = 0.057 and p < 0.001). CONCLUSIONS: In the setting of clinical stage I lung cancer, E-nose agrees well with histopathology. Accordingly, E-nose technology can be used in addition to imaging or as part of a "multiomics" platform.

3.
Nurse Educ ; 49(4): E175-E179, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38299887

RESUMEN

BACKGROUND: Limited evidence exists on factors influencing nursing students' sleep quality during clinical practicums. PURPOSE: This study examined the sleep quality of nursing students and factors that affect sleep quality during clinical practicums. METHODS: Undergraduate nursing students (n = 135) enrolled in clinical practicums in 3 universities completed questionnaires including sociodemographics and the Pittsburgh Sleep Quality Index (PSQI). Stepwise linear regression evaluated factors predicating sleep quality. RESULTS: Seventy percent of nursing students reported poor sleep quality. Weekly work hours and clinical hours were significant factors in predicting global PSQI scores, subjective sleep quality, sleep duration, sleep efficiency, and daytime dysfunctions. The students' race was related to sleep latency and sleeping medication. Clinical hours and living on campus were associated with sleep disturbances. CONCLUSION: Knowing the factors that influence nursing students' sleep during clinical practicums, nurse educators can help students improve sleep health and clinical experience.


Asunto(s)
Bachillerato en Enfermería , Investigación en Educación de Enfermería , Calidad del Sueño , Estudiantes de Enfermería , Humanos , Estudiantes de Enfermería/psicología , Estudiantes de Enfermería/estadística & datos numéricos , Femenino , Masculino , Encuestas y Cuestionarios , Adulto Joven , Adulto , Investigación en Evaluación de Enfermería , Preceptoría
4.
Nurs Educ Perspect ; 45(4): 242-244, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38227638

RESUMEN

ABSTRACT: Caring is a fundamental professional nursing value. This study examined the effect of the clinical learning environment (CLE) on nursing students' caring behaviors during the COVID-19 pandemic. Valuing nursing work in the CLE increased the knowledge and skills aspect of caring behavior. Higher CLE scores in affordances and engagement and student centeredness increased the respectful deference of others and positive connectedness aspects of caring behaviors. These results may inform efforts to promote aspects of nursing students' caring behaviors during global health emergencies by enhancing the value of nursing work, engagement, and student-focused qualities of the CLE.


Asunto(s)
COVID-19 , Bachillerato en Enfermería , Empatía , Estudiantes de Enfermería , Humanos , Estudiantes de Enfermería/psicología , Femenino , Masculino , Adulto , Adulto Joven , Pandemias
6.
Blood Adv ; 7(18): 5639-5648, 2023 09 26.
Artículo en Inglés | MEDLINE | ID: mdl-37257193

RESUMEN

Promising results have been reported for adult patients with high-risk hematologic malignancies undergoing haploidentical bone marrow transplant (haploBMT) with posttransplant cyclophosphamide (PTCy). To our knowledge, we report results from the first multicenter trial for pediatric and young adult patients with high-risk acute leukemias and myelodysplastic syndrome (MDS) in the Pediatric Transplantation and Cellular Therapy Consortium. Nine centers performed transplants in 32 patients having acute leukemias or MDS, with myeloablative conditioning (MAC), haploBMT with PTCy, mycophenolate mofetil, and tacrolimus. The median patient age was 12 years. Diagnoses included AML (15), ALL (11), mixed-lineage leukemia (1), and MDS (5). Transplant-related mortality (TRM) at 180 days was 0%. The cumulative incidence (CuI) of grade 2 acute graft-versus-host disease (aGVHD) on day 100 was 13%. No patients developed grades 3-4 aGVHD. The CuI of moderate-to-severe chronic GVHD (cGVHD) at 1 year was 4%. Donor engraftment occurred in 27 patients (84%). Primary graft failures included 3 patients who received suboptimal bone marrow grafts; all successfully engrafted after second transplants. The CuI of relapse at 1 year was 32%, with more relapse among patients MRD positive pre-BMT vs MRD negative. Overall survival rates at 1 and 2 years were 77% and 73%, and event-free survival rate at 1 and 2 years were 68% and 64%. There was no TRM or severe aGVHD, low cGVHD, and favorable relapse and survival rates. This successful pilot trial has led to a phase 3 trial comparing MAC haploBMT vs HLA-matched unrelated donor BMT in the Children's Oncology Group. This trial was registered at www.clinicaltrials.gov as #NCT02120157.


Asunto(s)
Enfermedad Injerto contra Huésped , Leucemia , Síndromes Mielodisplásicos , Adulto Joven , Humanos , Niño , Estudios Prospectivos , Ciclofosfamida/uso terapéutico , Trasplante de Médula Ósea/efectos adversos , Enfermedad Injerto contra Huésped/etiología , Leucemia/complicaciones , Enfermedad Aguda , Síndromes Mielodisplásicos/terapia , Síndromes Mielodisplásicos/complicaciones , Recurrencia
7.
J Hum Genet ; 68(8): 551-557, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37072622

RESUMEN

Genetic testing advances have enabled the provision of previously unavailable information on the pathogenicity of genetic variants, frequently necessitating the recontact of former patients by clinicians. In Japan, national health insurance coverage was extended to BRCA1/2 testing for the diagnosis of hereditary breast and ovarian cancer for patients who meet certain criteria in 2020, and conditions necessitating recontact were expected to increase. Studies and discussions regarding recontact have been conducted in the U.S. and Europe; however, in Japan, the national discussion around recontact remains undeveloped. We conducted a cross-sectional study by interviewing 73 facilities accredited by the Japanese Organization of Hereditary Breast and Ovarian Cancer regarding the practice of recontacting patients at these facilities. Sixty-six facilities responded that they recontact patients, but only 17 facilities had a protocol for this. The most common reason for recontact was that it could benefit the patient. Facilities that did not recontact stated that they lacked the necessary personnel or services. Most facilities indicated that a recontact system should be implemented in their practice. The increased burden on too few medical personnel, unestablished systems, patient confusion, and the right not to know were cited as barriers to implementing recontact. Although developing recommendations on recontact would be useful for providing equitable healthcare in Japan, there is an urgent need to deepen the discussion on recontacting, as negative opinions about recontacting patients were observed.


Asunto(s)
Neoplasias de la Mama , Pruebas Genéticas , Neoplasias Ováricas , Humanos , Japón , Detección Precoz del Cáncer , Neoplasias de la Mama/genética , Neoplasias Ováricas/genética , Encuestas y Cuestionarios , Femenino
8.
Hepatology ; 77(2): 530-545, 2023 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-36069569

RESUMEN

BACKGROUND AND AIMS: Detailed investigation of the biological pathways leading to hepatic fibrosis and identification of liver fibrosis biomarkers may facilitate early interventions for pediatric cholestasis. APPROACH AND RESULTS: A targeted enzyme-linked immunosorbent assay-based panel of nine biomarkers (lysyl oxidase, tissue inhibitor matrix metalloproteinase (MMP) 1, connective tissue growth factor [CTGF], IL-8, endoglin, periostin, Mac-2-binding protein, MMP-3, and MMP-7) was examined in children with biliary atresia (BA; n = 187), alpha-1 antitrypsin deficiency (A1AT; n = 78), and Alagille syndrome (ALGS; n = 65) and correlated with liver stiffness (LSM) and biochemical measures of liver disease. Median age and LSM were 9 years and 9.5 kPa. After adjusting for covariates, there were positive correlations among LSM and endoglin ( p = 0.04) and IL-8 ( p < 0.001) and MMP-7 ( p < 0.001) in participants with BA. The best prediction model for LSM in BA using clinical and lab measurements had an R2 = 0.437; adding IL-8 and MMP-7 improved R2 to 0.523 and 0.526 (both p < 0.0001). In participants with A1AT, CTGF and LSM were negatively correlated ( p = 0.004); adding CTGF to an LSM prediction model improved R2 from 0.524 to 0.577 ( p = 0.0033). Biomarkers did not correlate with LSM in ALGS. A significant number of biomarker/lab correlations were found in participants with BA but not those with A1AT or ALGS. CONCLUSIONS: Endoglin, IL-8, and MMP-7 significantly correlate with increased LSM in children with BA, whereas CTGF inversely correlates with LSM in participants with A1AT; these biomarkers appear to enhance prediction of LSM beyond clinical tests. Future disease-specific investigations of change in these biomarkers over time and as predictors of clinical outcomes will be important.


Asunto(s)
Síndrome de Alagille , Colestasis , Diagnóstico por Imagen de Elasticidad , Hepatopatías , Humanos , Niño , Hígado/patología , Metaloproteinasa 7 de la Matriz , Endoglina , Interleucina-8 , Colestasis/patología , Cirrosis Hepática/diagnóstico , Cirrosis Hepática/patología , Hepatopatías/patología , Biomarcadores , Síndrome de Alagille/patología
10.
Nurse Educ Pract ; 63: 103391, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35779470

RESUMEN

AIM: The aim is to explore literature on the influence of the clinical learning environment on caring behaviors of undergraduate nursing students. BACKGROUND: Caring is a fundamental aspect of nursing practice. However, factors of and in clinical learning environment that help shape the caring behaviors of nursing students as part of their education journey remain understudied. DESIGN: A modified version of Cooper's five-stage integrative review method was used. METHODS: Four databases (Cumulative Index of Nursing and Allied Health, PubMed, Scopus and Embase) were searched for research studies published from 2011 to 2021 in peer reviewed journals, written in English and addressing caring behaviors among nursing students in the clinical learning environment. A combination of keywords with Boolean operators was used including: "nursing students OR nursing undergraduates OR student nurses" and "clinical learning environment" AND "caring behaviors". Reporting followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement guidelines. RESULTS: Empirical evidence was drawn from 11 studies including seven qualitative designs, three quantitative designs and one mixed method design. The results of this review suggest that factors in the clinical learning environment influence nursing students' ability to develop caring behaviors. Specifically, the five themes of: [1] role modeling of clinical faculty and professional nurses, [2] creating a conducive clinical learning environment, [3] effective communication skills, [4] positive effect of simulation and [5] alternative clinical placements may facilitate the development of caring behaviors among nursing students. CONCLUSION: The findings highlight the factors in the clinical learning environment that influence nursing students' caring behaviors. Improving students' clinical learning experiences and implementing more effective role modeling and teaching strategies may advance their caring abilities. The information generated from this review provides evidence on how to enhance the clinical learning environment to develop students' caring behaviors, subsequently leading to more optimal patient outcomes.


Asunto(s)
Bachillerato en Enfermería , Estudiantes de Enfermería , Bachillerato en Enfermería/métodos , Docentes de Enfermería , Humanos , Aprendizaje
11.
Child Abuse Negl ; 129: 105663, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35640348

RESUMEN

BACKGROUND: Over the last decade Tanzania has become recognized as a regional leader in addressing issues of violence affecting children. Despite global partnerships and national initiatives, physical punishments remain legally sanctioned and broadly socially supported as part of responsible childrearing. OBJECTIVE: This research aimed to gain insights into community perspectives and experiences of physical punishments in children's upbringings and how community derived meaning and measurement of particular acts relate with global rights-based conceptualizations of physical violence against children. PARTICIPANTS AND SETTING: Fourteen months of ethnographic research was conducted primarily in and around a peri-urban community in northwest Tanzania. Interviews with national- and global-level children's rights and safety representatives were conducted in Dar-es-Salaam. Twenty-four, school-going girls and boys (ages 8-12) and 53 adults directly participated in study activities. METHODS: Data collection methods included participant observation, participatory workshops (9), semi-structured interviews (36) and document reviews. Thematic analysis was used to analyze data. RESULTS: Data revealed ongoing debate regarding the use of physical punishments in children's upbringings and their association with violence. Resistance to the global children's rights promoted discourse of complete elimination of physical punishment of children manifested as avoidance, negotiation and rejection. Corporal punishment proved a particularly problematic term. CONCLUSIONS: Child protection and children's rights are dynamic systems, vernacularized based on unique regional histories and ongoing social change. Prioritization of contextualized and dynamic constructions of children's wellbeing and safety can support the development of sustainable protection systems that support the safety and development of children and families in local communities.


Asunto(s)
Lenguaje , Castigo , Adulto , Niño , Femenino , Humanos , Masculino , Instituciones Académicas , Tanzanía , Violencia/prevención & control
12.
BMJ Open ; 12(5): e055231, 2022 05 06.
Artículo en Inglés | MEDLINE | ID: mdl-35523488

RESUMEN

INTRODUCTION: National violence against children (VAC) surveys in Tanzania and Kenya reported that approximately three-quarters of children in Tanzania experienced physical violence while 45.9% of women and 56.1% of men experienced childhood violence in Kenya. In response to VAC, Investing in Children and their Societies-Strengthening Families & Protecting Children (ICS-SP) developed the whole school approach (WSA) for reducing VAC in and around schools. Objectives of this evaluation are to: (1) determine intervention's feasibility and (2) the extent to which the WSA reduces prevalence and incidence of VAC in and around schools in Kenya and Tanzania; (3) gain insights into changes in stakeholders' knowledge, attitudes and practices in relation to VAC following intervention implementation and (4) provide evidence-based recommendations for refining intervention content, delivery and theory of change (ToC). METHODS AND ANALYSIS: The study is a mixed-methods, controlled before-and-after, quasi experimental pilot designed to assess the delivery and potential changes in knowledge, attitudes, behaviours and VAC prevalence and incidence in and around schools following the WSA intervention implementation in Kenya and Tanzania. The preintervention phase will entail stakeholder enhancement of the WSA ToC and baseline cross-sectional surveys of teaching and non-teaching staff and parents (knowledge, attitude and practices), pupils (VAC incidents and school climate) and school safety audits. The WSA intervention implementation phase will include an intervention delivery process assessment and random school visits. In the postintervention phase, end-line surveys will be conducted similarly to baseline. Focus group discussions and in-depth interviews will be held with ICS-SP staff, training facilitators, teachers, parents and pupils to gain insights into acceptability, delivery and potential intervention effects. Quantitative and qualitative data will be analysed using SPSS V.25 and NVIVO V.12, respectively. ETHICS AND DISSEMINATION: Ethics approvals were received from Amref Health Africa in Kenya (AMREF-ESRC P910/2020) and National Health Research Ethics Committee (NatHREC) in Tanzania (NIMR/HQ/R.8a/Vol.IX/3655). Dissemination will be through research reports.


Asunto(s)
Instituciones Académicas , Violencia , Niño , Estudios Transversales , Femenino , Humanos , Kenia , Masculino , Proyectos Piloto , Tanzanía , Violencia/prevención & control
14.
J Pediatr Gastroenterol Nutr ; 73(1): 80-85, 2021 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-33633086

RESUMEN

OBJECTIVE: Neonatal acute liver failure (ALF) is a rare disease with high mortality for which no standard age-specific definition exists. To advance the understanding of neonatal ALF, we characterize the etiology, presenting features, treatment, and outcomes in infants within 1 month of life. METHODS: We performed a single-center 11-year retrospective chart review of neonates ≤30 days of life with ALF as defined by an INR of ≥2.0. Comparisons were made by etiology and survival with native liver (SNL). Estimated survival was performed using the Kaplan-Meier method. RESULTS: Forty-three patients met inclusion criteria for neonatal ALF. Etiologies included viral infection (23%), gestational alloimmune liver disease with neonatal hemochromatosis (GALD-NH) (21%), cardiac-associated ischemia (16%), other ischemia (14%), genetic etiologies (9%), Trisomy 21-associated myelodysplasia (TAM) (7%), hemophagocytic lymphohistiocytosis (HLH) (2%), and not identified (7%). Infants with viral etiologies had the highest alanine aminotransferase (ALT) at presentation (1179 IU/L, interquartile range [IQR] 683-1585 IU/L) in contrast to low levels in GALD-NH (23 IU/L, IQR 18-64 IU/L). Across all etiologies, only 33% were alive at 1 year. Overall median survival was 74 days; 17 days for viral infection and 74 days for GALD-NH. Among laboratory values at presentation, alpha-fetoprotein (AFP) was significantly higher in patients that survived with their native liver (P = 0.04). CONCLUSIONS: Overall, outcome for neonatal ALF is poor. Although initial laboratory values can differentiate viral infection or GALD-NH, further studies are needed to identify laboratory parameters that predict SNL by etiology to ultimately improve patient outcomes.


Asunto(s)
Hemocromatosis , Fallo Hepático Agudo , Fallo Hepático , Factores de Edad , Humanos , Lactante , Recién Nacido , Fallo Hepático Agudo/diagnóstico , Fallo Hepático Agudo/etiología , Fallo Hepático Agudo/terapia , Estudios Retrospectivos
15.
JTCVS Tech ; 10: 483-488, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34984398

RESUMEN

Video 1Incision and port placement of 4 to 5 cm at the fifth or sixth intercostal space between the anterior and the midaxillary line. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 2Dissection of the anterior mediastinal pleura and division of the superior pulmonary vein. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 3Dissection of the apical mediastinal pleura and division of the anterior and apical branches of the pulmonary artery. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 4Dissection and division of the anterior oblique fissure and division of the lingular branches of the pulmonary artery. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 5Dissection and division of the interlobar fissure and the posterior branch of the pulmonary artery. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 6Dissection and division of the left upper lobe bronchus. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 7Lymph node dissection (subaortic, hilar, subcarinal, or inferior pulmonary ligament) and division of the inferior pulmonary ligament. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 8Specimen retrieval. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.Video 9Chest tube placement. Video available at: https://www.jtcvs.org/article/S2666-2507(21)00717-3/fulltext.

16.
Arthritis Rheumatol ; 73(3): 512-519, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33021335

RESUMEN

OBJECTIVE: Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of vasculitis that can resemble polyarteritis nodosa (PAN). This study was undertaken to identify potential disease-causing sequence variants in ADA2 in patients with idiopathic PAN, granulomatosis with polyangiitis (GPA), or microscopic polyangiitis (MPA). METHODS: Patients with idiopathic PAN (n = 118) and patients with GPA or MPA (n = 1,107) were screened for rare nonsynonymous variants in ADA2 using DNA sequencing methods. ADA-2 enzyme activity was assessed in selected serum samples. RESULTS: Nine of 118 patients with PAN (7.6%) were identified as having rare nonsynonymous variants in ADA2. Four patients (3.4%) were biallelic for pathogenic or likely pathogenic variants, and 5 patients (4.2%) were monoallelic carriers for 3 variants of uncertain significance and 2 likely pathogenic variants. Serum samples from 2 patients with PAN with biallelic variants were available and showed markedly reduced ADA-2 enzyme activity. ADA-2 enzyme testing of 86 additional patients revealed 1 individual with strongly reduced ADA-2 activity without detectable pathogenic variants. Patients with PAN and biallelic variants in ADA2 were younger at diagnosis than patients with 1 or no variant in ADA2, with no other clinical differences noted. None of the patients with GPA or MPA carried biallelic variants in ADA2. CONCLUSION: A subset of patients with idiopathic PAN meet genetic criteria for DADA2. Given that tumor necrosis factor inhibition is efficacious in DADA2 but is not conventional therapy for PAN, these findings suggest that ADA-2 testing should strongly be considered in patients with hepatitis B virus-negative idiopathic PAN.


Asunto(s)
Adenosina Desaminasa/genética , Granulomatosis con Poliangitis/genética , Péptidos y Proteínas de Señalización Intercelular/genética , Poliangitis Microscópica/genética , Poliarteritis Nudosa/genética , Adenosina Desaminasa/deficiencia , Adenosina Desaminasa/metabolismo , Adolescente , Adulto , Anciano , Estudios de Cohortes , Femenino , Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Péptidos y Proteínas de Señalización Intercelular/deficiencia , Péptidos y Proteínas de Señalización Intercelular/metabolismo , Masculino , Persona de Mediana Edad , Poliarteritis Nudosa/metabolismo , Análisis de Secuencia de ADN , Adulto Joven
18.
Sci Rep ; 10(1): 2709, 2020 02 17.
Artículo en Inglés | MEDLINE | ID: mdl-32066793

RESUMEN

Biliary atresia (BA) is a severe pediatric liver disease resulting in necroinflammatory obliteration of the extrahepatic biliary tree. BA presents within the first few months of life as either an isolated finding or with additional syndromic features. The etiology of isolated BA is unknown, with evidence for infectious, environmental, and genetic risk factors described. However, to date, there are no definitive causal genes identified for isolated BA in humans, and the question of whether single gene defects play a major role remains open. We performed exome-sequencing in 101 North American patients of European descent with isolated BA (including 30 parent-child trios) and considered several experimental designs to identify potentially deleterious protein-altering variants that may be involved in the disease. In a case-only analysis, we did not identify genes with variants shared among more than two probands, and burden tests of rare variants using a case-case control design did not yield significant results. In the trio analysis of 30 simplex families (patient and parent trios), we identified 66 de novo variants in 66 genes including potentially deleterious variants in STIP1 and REV1. STIP1 is a co-chaperone for the heat-shock protein, HSP90, and has been shown to have diverse functions in yeast, flies and mammals, including stress-responses. REV1 is known to be a key player in DNA repair pathway and to interact with HSP90. In conclusion, our results do not support the hypothesis that a simple genetic model is responsible for the majority of cases of isolated BA. Our finding of de novo variants in genes linked to evolutionarily conserved stress responses (STIP1 and REV1) suggests that exploration of how genetic susceptibility and environmental exposure may interact to cause BA is warranted.


Asunto(s)
Atresia Biliar/diagnóstico , Exoma , Proteínas HSP90 de Choque Térmico/genética , Proteínas de Choque Térmico/genética , Mutación Missense , Nucleotidiltransferasas/genética , Atresia Biliar/genética , Atresia Biliar/metabolismo , Atresia Biliar/patología , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Expresión Génica , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad , Proteínas HSP90 de Choque Térmico/metabolismo , Proteínas de Choque Térmico/metabolismo , Humanos , Masculino , Nucleotidiltransferasas/metabolismo , Polimorfismo de Nucleótido Simple , Secuenciación del Exoma
19.
Nurs Ethics ; 27(5): 1250-1260, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31757189

RESUMEN

BACKGROUND AND AIM: Nursing students form a professional identity from their core values, role models, and past experiences, and these factors contribute to the development of their professional identity. The hidden curriculum, a set of ethics and values learned within a clinical setting, may be part of developing a professional identity. Nursing students will develop a professional identity throughout school; however, their identity might be challenged as they attempt to balance their core values with behaviors learned through the hidden curriculum. The purpose of this project was to educate students on the hidden curriculum in the development of their professional identity. MATERIALS AND METHODS: A sample of 112 senior nursing students was recruited from a northeastern university in the United States for this study. Pre-post survey design was used, and an educational session was administered prior to the post-survey. Descriptive statistics and a valid percentage were used to describe the data within the surveys. ETHICAL CONSIDERATION: Study was approved by the author's University Institutional Review Board. FINDINGS: A significant finding was for advocacy as students would speak up if witnessing inappropriate behavior toward patients or families with a mean score increase from 2.50 (pre-survey) to 1.45 (post-survey). Also, over 95% (n = 106) found the educational session beneficial as they learned they had the ability to advocate and speak up for their patients. CONCLUSION: Students were able to use their core values and advocate for their patients and families which allows for safer patient care.


Asunto(s)
Bachillerato en Enfermería/normas , Profesionalismo/normas , Socialización , Estudiantes de Enfermería/psicología , Curriculum/normas , Curriculum/tendencias , Bachillerato en Enfermería/métodos , Bachillerato en Enfermería/estadística & datos numéricos , Humanos , Investigación Cualitativa , Estudiantes de Enfermería/estadística & datos numéricos , Encuestas y Cuestionarios
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