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1.
Fam Med ; 56(8): 476-484, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39012288

RESUMEN

BACKGROUND AND OBJECTIVES: Increasing diversity among medical educators is a vital step toward diversifying the physician workforce. This study examined how gender, race, and other attributes affect family medicine department chairs' experiences with sponsoring, mentoring, and coaching (SMC). We identified strategies at multiple levels to enhance SMC for faculty from underrepresented groups (URGs). METHODS: Our qualitative study employed semistructured interviews with the chairs of departments of family medicine in the United States. We used inductive and deductive thematic analysis approaches to describe the experience and name usable strategies organized along the social-ecological model. RESULTS: We interviewed 20 family medicine department chairs between December 2020 and May 2021. Many participants continued to be alarmed that leaders and role models from URGs have been rare. Participants described incidents of aggression in White- and male-dominated atmospheres. Such experiences left some feeling not at home. Some White male leaders appeared oblivious to the experiences of URG faculty, many of whom were burdened with a minority tax. For some URGs, surviving meant moving to a more supportive institution. Building spaces for resiliency and connecting with others to combat discrimination gave meaning to some participants. Participant responses helped identify multilevel strategies for empowerment and support for URG faculty. CONCLUSIONS: Understanding the experiences of URG faculty is paramount to improving the environment in academic medicine-paving the way to enhancing diversity in the health care sector. Institutions and individuals need to develop multilevel strategies for empowerment and support to actively make diverse faculty feel at home.


Asunto(s)
Empoderamiento , Docentes Médicos , Medicina Familiar y Comunitaria , Grupos Minoritarios , Investigación Cualitativa , Humanos , Medicina Familiar y Comunitaria/educación , Masculino , Docentes Médicos/psicología , Femenino , Estados Unidos , Entrevistas como Asunto , Tutoría , Adulto , Persona de Mediana Edad , Liderazgo
2.
Int J Cancer ; 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38995150

RESUMEN

Human epidermal growth factor receptor-2 (HER2), programmed death-ligand 1 (PD-L1), and microsatellite (MS) status are well-established biomarkers in gastroesophageal adenocarcinomas (GEAs). However, it is unclear how the combination of these biomarkers is associated with clinicopathological factors and prognosis. This retrospective study included baseline metastatic GEA patients who were tested for all three biomarkers (HER2, PD-L1, and MS status) at the MD Anderson Cancer Center between 2012 and 2022. Stratification was performed according to the combination of biomarker profiles: triple negative (TN), single positive (SP), and multiple positive (MP). Comparative analyses of clinicopathological factors and survival using combinations of biomarkers were performed. Among the 698 GEA patients analyzed, 251 (36.0%) were classified as TN, 334 (47.9%) as SP, and 113 (16.1%) as MP. The MP group showed a significant association with tumors located in the esophagus (p < .001), well to moderate differentiation (p < .001), and the absence of signet ring cells (p < .001). In the survival analysis, MP group had a significantly longer overall survival (OS) compared to the other groups (MP vs. TN, p < .001 and MP vs. SP, p < .001). Multivariate Cox regression analysis revealed that MP serves as an independent positive prognostic indicator for OS (hazard ratio = 0.63, p < .01). Our findings indicate that MP biomarkers are associated with a favorable prognosis in metastatic GEA. These results are reflective of clinical practice and offer valuable insights into how therapeutics and future biomarkers could influence therapy/prognosis.

3.
Health Place ; 87: 103218, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38564990

RESUMEN

Urban densification is a key strategy to accommodate rapid urban population growth, but emerging evidence suggests serious risks of urban densification for individuals' mental health. To better understand the complex pathways from urban densification to mental health, we integrated interdisciplinary expert knowledge in a causal loop diagram via group model building techniques. Six subsystems were identified: five subsystems describing mechanisms on how changes in the urban system caused by urban densification may impact mental health, and one showing how changes in mental health may alter urban densification. The new insights can help to develop resilient, healthier cities for all.


Asunto(s)
Salud Mental , Humanos , Países Bajos , Población Urbana , Remodelación Urbana
4.
Fam Med Community Health ; 12(Suppl 3)2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38609091

RESUMEN

Storylines of Family Medicine is a 12-part series of thematically linked mini-essays with accompanying illustrations that explore the many dimensions of family medicine, as interpreted by individual family physicians and medical educators in the USA and elsewhere around the world. In 'XII: Family medicine and the future of the healthcare system', authors address the following themes: 'Leadership in family medicine', 'Becoming an academic family physician', 'Advocare-our call to act', 'The paradox of primary care and three simple rules', 'The quadruple aim-melding the patient and the health system', 'Fit-for-purpose medical workforce', 'Universal healthcare-coverage for all', 'The futures of family medicine' and 'The 100th essay.' May readers of these essays feel empowered to be part of family medicine's exciting future.


Asunto(s)
Medicina Familiar y Comunitaria , Médicos de Familia , Humanos , Emociones , Instituciones de Salud , Atención de Salud Universal
5.
Med Clin North Am ; 107(6): 1121-1144, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37806727

RESUMEN

A new National Academies of Sciences, Engineering, and Medicine report, "Achieving Whole Health: A New Approach for Veterans and the Nation," redefines what it means to be healthy and creates a roadmap for health systems, including the Veterans Health Administration and the nation, to scale and spread a whole health approach to care. The report identifies 5 foundational elements for whole health care and sets 6 national, state, and local policy goals for change. This article summarizes the report, emphasizes the importance of preventive medicine, and identifies concrete actions clinicians and practices can take now to deliver whole health care.


Asunto(s)
Atención a la Salud , Estado de Salud , Humanos
6.
JAMA Health Forum ; 4(5): e230874, 2023 05 05.
Artículo en Inglés | MEDLINE | ID: mdl-37145685

RESUMEN

This Viewpoint discusses the Whole Health System of care led by the US Department of Veterans Affairs.


Asunto(s)
Veteranos , Humanos , Estados Unidos , United States Department of Veterans Affairs , Registros Médicos , Ingeniería
7.
Fam Med ; 55(3): 143-151, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36888668

RESUMEN

BACKGROUND AND OBJECTIVES: The goal of this study was to explore how to use sponsoring, coaching, and mentoring (SCM) for faculty development by clarifying the functions embedded in SCM. The study aims to ensure that department chairs can be intentional in providing those functions and/or playing those roles for the benefit of all their faculty. METHODS: We used qualitative, semistructured interviews in this study. We followed a purposeful sampling strategy to recruit a diverse sample of family medicine department chairs across the United States. Participants were asked about their experiences receiving and providing sponsoring, coaching, and mentoring. We iteratively coded audio recorded and transcribed interviews for content and themes. RESULTS: We interviewed 20 participants between December 2020 and May 2021 to identify actions associated with sponsoring, coaching, and mentoring. Participants identified six main actions sponsors perform. These actions are identifying opportunities, recognizing an individual's strengths, encouraging opportunity-seeking, offering tangible support, optimizing candidacy, nominating as a candidate, and promising support. In contrast, they identified seven main actions a coach performs. These are clarifying, advising, giving resources, performing critical appraisals, giving feedback, reflecting, and scaffolding (ie, providing support while learning). Finally, participants identified six main actions the mentors perform. The list includes checking in, listening, sharing wisdom, directing, supporting, and collaborating. CONCLUSIONS: We present SCM as an identifiable series of actions that need to be thought of and performed intentionally. Our clarification will help leaders purposefully select their actions and allows opportunity for evaluating their effectiveness. Future research will explore developing and evaluating programs that support learning how to provide SCM in order to enhance the process of faculty development and provide it equitably.


Asunto(s)
Tutoría , Mentores , Humanos , Estados Unidos , Medicina Familiar y Comunitaria , Investigación Cualitativa , Docentes
8.
Intensive Care Med Exp ; 9(1): 30, 2021 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-34169407

RESUMEN

BACKGROUND: Acute kidney injury is a severe complication following cardiopulmonary bypass (CPB) and is associated with capillary leakage and microcirculatory perfusion disturbances. CPB-induced thrombin release results in capillary hyperpermeability via activation of protease-activated receptor 1 (PAR1). We investigated whether aprotinin, which is thought to prevent thrombin from activating PAR1, preserves renal endothelial structure, reduces renal edema and preserves renal perfusion and reduces renal injury following CPB. METHODS: Rats were subjected to CPB after treatment with 33.000 KIU/kg aprotinin (n = 15) or PBS (n = 15) as control. A secondary dose of 33.000 KIU/kg aprotinin was given 60 min after initiation of CPB. Cremaster and renal microcirculatory perfusion were assessed using intravital microscopy and contrast echography before CPB and 10 and 60 min after weaning from CPB. Renal edema was determined by wet/dry weight ratio and renal endothelial structure by electron microscopy. Renal PAR1 gene and protein expression and markers of renal injury were determined. RESULTS: CPB reduced cremaster microcirculatory perfusion by 2.5-fold (15 (10-16) to 6 (2-10) perfused microvessels, p < 0.0001) and renal perfusion by 1.6-fold (202 (67-599) to 129 (31-292) au/sec, p = 0.03) in control animals. Both did not restore 60 min post-CPB. This was paralleled by increased plasma creatinine (p < 0.01), neutrophil gelatinase-associated lipocalin (NGAL; p = 0.003) and kidney injury molecule-1 (KIM-1; p < 0.01). Aprotinin treatment preserved cremaster microcirculatory perfusion following CPB (12 (7-15) vs. 6 (2-10) perfused microvessels, p = 0.002), but not renal perfusion (96 (35-313) vs. 129 (31-292) au/s, p > 0.9) compared to untreated rats. Aprotinin treatment reduced endothelial gap formation (0.5 ± 0.5 vs. 3.1 ± 1.4 gaps, p < 0.0001), kidney wet/dry weight ratio (4.6 ± 0.2 vs. 4.4 ± 0.2, p = 0.046), and fluid requirements (3.9 ± 3.3 vs. 7.5 ± 3.0 ml, p = 0.006) compared to untreated rats. In addition, aprotinin treatment reduced tubulointerstitial neutrophil influx by 1.7-fold compared to untreated rats (30.7 ± 22.1 vs. 53.2 ± 17.2 neutrophil influx/section, p = 0.009). No differences were observed in renal PAR1 expression and plasma creatinine, NGAL or KIM-1 between groups. CONCLUSIONS: Aprotinin did not improve renal perfusion nor reduce renal injury during the first hour following experimental CPB despite preservation of renal endothelial integrity and reduction of renal edema.

9.
Artículo en Inglés | MEDLINE | ID: mdl-34063085

RESUMEN

Within this article, we explore the dual impact of two pandemics, racism and COVID-19, on the career and psychological well-being of diverse faculty within academic medicine. First, we present a discussion of the history of racism in academic medicine and the intensification of racial disparities due to the COVID-19 pandemic. As a result of the syndemic of racism and COVID-19, the outlook for the recruitment, retention, and advancement of diverse faculty and leaders within academic medicine is at risk. While mentoring is known to have benefits for career and personal development, we focus on the unique and often unacknowledged role that mentoring can play as a buffer for women and people of color, especially when working in institutions that lack diversity and are now struggling with the syndemic of racism and COVID-19. We also discuss the implications of acknowledging mentoring as a buffer for future leadership development, research, and programs within academic medicine and health professions.


Asunto(s)
COVID-19 , Tutoría , Racismo , Docentes , Femenino , Humanos , Pandemias , SARS-CoV-2 , Sindémico
10.
Circulation ; 143(24): 2395-2405, 2021 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-34125564

RESUMEN

In the United States, race-based disparities in cardiovascular disease care have proven to be pervasive, deadly, and expensive. African American/Black, Hispanic/Latinx, and Native/Indigenous American individuals are at an increased risk of cardiovascular disease and are less likely to receive high-quality, evidence-based medical care as compared with their White American counterparts. Although the United States population is diverse, the cardiovascular workforce that provides its much-needed care lacks diversity. The available data show that care provided by physicians from racially diverse backgrounds is associated with better quality, both for minoritized patients and for majority patients. Not only is cardiovascular workforce diversity associated with improvements in health care quality, but racial diversity among academic teams and research scientists is linked with research quality. We outline documented barriers to achieving workforce diversity and suggest evidence-based strategies to overcome these barriers. Key strategies to enhance racial diversity in cardiology include improving recruitment and retention of racially diverse members of the cardiology workforce and focusing on cardiovascular health equity for patients. This review draws attention to academic institutions, but the implications should be considered relevant for nonacademic and community settings as well.


Asunto(s)
Cardiólogos/estadística & datos numéricos , Femenino , Equidad en Salud , Humanos , Masculino , Grupos Raciales , Estados Unidos , Recursos Humanos
12.
PLoS One ; 16(2): e0247241, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33606791

RESUMEN

Predation mortality can influence the distribution and abundance of fish populations. While predation is often assessed using direct observations of prey consumption, potential predation can be predicted from co-occurring predator and prey densities under varying environmental conditions. Juvenile Pacific salmon Oncorhynchus spp. (i.e., smolts) from the Columbia River Basin experience elevated mortality during the transition from estuarine to ocean habitat, but a thorough understanding of the role of predation remains incomplete. We used a Holling type II functional response to estimate smolt predation risk based on observations of piscivorous seabirds (sooty shearwater [Ardenna griseus] and common murre [Uria aalge]) and local densities of alternative prey fish including northern anchovy (Engraulis mordax) in Oregon and Washington coastal waters during May and June 2010-2012. We evaluated predation risk relative to the availability of alternative prey and physical factors including turbidity and Columbia River plume area, and compared risk to returns of adult salmon. Seabirds and smolts consistently co-occurred at sampling stations throughout most of the study area (mean = 0.79 ± 0.41, SD), indicating that juvenile salmon are regularly exposed to avian predators during early marine residence. Predation risk for juvenile coho (Oncorhynchus kisutch), yearling Chinook salmon (O. tshawytscha), and subyearling Chinook salmon was on average 70% lower when alternative prey were present. Predation risk was greater in turbid waters, and decreased as water clarity increased. Juvenile coho and yearling Chinook salmon predation risk was lower when river plume surface areas were greater than 15,000 km2, while the opposite was estimated for subyearling Chinook salmon. These results suggest that plume area, turbidity, and forage fish abundance near the mouth of the Columbia River, all of which are influenced by river discharge, are useful indicators of potential juvenile salmon mortality that could inform salmonid management.


Asunto(s)
Aves/fisiología , Peces/fisiología , Oncorhynchus kisutch/crecimiento & desarrollo , Conducta Predatoria/fisiología , Animales , Animales Recién Nacidos , Oregon , Dinámica Poblacional , Ríos , Washingtón
14.
JAMA Pediatr ; 174(12): 1199-1205, 2020 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-32628268

RESUMEN

Importance: Kernicterus is a devastating, permanently disabling neurologic condition resulting from bilirubin neurotoxicity. Black neonates account for more than 25% of kernicterus cases in the US, despite making up only approximately 14% of all births. This is a largely overlooked health disparity. Observations: The black kernicterus health disparity exists despite a lower overall incidence of clinically significant hyperbilirubinemia among black neonates, a paradox recently explained by a previously unrecognized risk for hazardous hyperbilirubinemia. Aligned with national and global health initiatives to reduce or eliminate health disparities, this review highlights the multiple biologic and nonbiologic factors contributing to kernicterus risk in black infants and approaches to reduce this health disparity. This includes both parent-level and clinician-level kernicterus prevention strategies, with an emphasis on improving parental health literacy on neonatal jaundice and acute bilirubin encephalopathy and clinician awareness of the key factors that contribute to hazardous hyperbilirubinemia risk in this vulnerable group. Parent-level prevention strategies include efforts to improve their health literacy on neonatal jaundice and acute bilirubin encephalopathy and empower care seeking for jaundice. Clinician-level prevention strategies include efforts to eliminate community and institutional barriers that impede access to care, heighten clinician awareness of the factors that contribute to kernicterus risk in this vulnerable patient group, and strengthen newborn hyperbilirubinemia management and bilirubin surveillance. Conclusions and Relevance: There are multiple opportunities for intervention to reduce black kernicterus risk. Although kernicterus is a rare disorder, the incidence among black infants is not a trivial matter nor are efforts to prevent kernicterus. While the multiple interacting biologic and nonbiologic contributors to increased kernicterus risk among black infants pose a considerable challenge to clinicians, there are opportunities for intervention to reduce this risk and health disparity. Continued study is imperative to understand the current scope of kernicterus and its occurrence in black neonates.


Asunto(s)
Población Negra/estadística & datos numéricos , Kernicterus/epidemiología , Kernicterus/prevención & control , Humanos , Hiperbilirrubinemia Neonatal/epidemiología , Hiperbilirrubinemia Neonatal/prevención & control , Incidencia , Recién Nacido , Kernicterus/etiología
15.
Fam Med ; 52(2): 104-111, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31940426

RESUMEN

BACKGROUND AND OBJECTIVES: Leadership positions in academic medicine lack racial and gender diversity. In 2016, the Council of Academic Family Medicine (CAFM) established a Leadership Development Task Force to specifically address the lack of diversity among leadership in academic family medicine, particularly for underrepresented minorities and women. APPROACH: The task force was formed in August 2016 with members from each of the CAFM organizations representing diversity of race, gender, and academic position. The group met from August 2016 to December 2017. The task force reviewed available leadership development programming, and through consensus identified common pathways toward key leadership positions in academic family medicine-department chairs, program directors, medical student education directors, and research directors. consensus development: The task force developed a model that describes possible pathways to several leadership positions within academic family medicine. Additionally, we identified the intentional use of a multidimensional mentoring team as critically important for successfully navigating the path to leadership. CONCLUSIONS: There are ample opportunities available for leadership development both within family medicine organizations and outside. That said, individuals may require assistance in identifying and accessing appropriate opportunities. The path to leadership is not linear and leaders will likely hold more than one position in each of the domains of family medicine. Development as a leader is greatly enhanced by forming a multidimensional team of mentors.


Asunto(s)
Medicina Familiar y Comunitaria , Liderazgo , Docentes Médicos , Femenino , Humanos , Mentores , Grupos Minoritarios
16.
Toxicol Lett ; 312: 204-213, 2019 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-31047999

RESUMEN

Phosgene (Carbonyl Chloride, COCl2) remains an important chemical intermediate in many industrial processes such as combustion of chlorinated hydrocarbons and synthesis of solvents (degreasers, cleaners). It is a sweet smelling gas, and therefore does not prompt escape by the victim upon exposure. Supplemental oxygen and ventilation are the only available management strategies. This study was aimed to delineate the pathogenesis and identify novel biomarkers of acute lung injury post exposure to COCl2 gas. Adult male and female C57BL/6 mice (20-25 g), exposed to COCl2 gas (10 or 20 ppm) for 10 min in environmental chambers, had a dose dependent reduction in PaO2 and an increase in PaCO2, 1 day post exposure. However, mortality increased only in mice exposed to 20 ppm of COCl2 for 10 min. Correspondingly, these mice (20 ppm) also had severe acute lung injury as indicated by an increase in lung wet to dry weight ratio, extravasation of plasma proteins and neutrophils into the bronchoalveolar lavage fluid, and an increase in total lung resistance. The increase in acute lung injury parameters in COCl2 (20 ppm, 10 min) exposed mice correlated with simultaneous increase in oxidation of red blood cells (RBC) membrane, RBC fragility, and plasma levels of cell-free heme. In addition, these mice had decreased plasmalogen levels (plasmenylethanolamine) and elevated levels of their breakdown product, polyunsaturated lysophosphatidylethanolamine, in the circulation suggesting damage to cellular plasma membranes. This study highlights the importance of free heme in the pathogenesis of COCl2 lung injury and identifies plasma membrane breakdown product as potential biomarkers of COCl2 toxicity.


Asunto(s)
Lesión Pulmonar Aguda/inducido químicamente , Sustancias para la Guerra Química/toxicidad , Hemólisis/efectos de los fármacos , Fosgeno/toxicidad , Administración por Inhalación , Animales , Femenino , Masculino , Ratones , Ratones Endogámicos C57BL , Fosgeno/administración & dosificación
17.
Ecol Evol ; 9(8): 4805-4819, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31031946

RESUMEN

Studies estimating species' distributions require information about animal locations in space and time. Location data can be collected using surveys within a predetermined frame of reference (i.e., Eulerian sampling) or from animal-borne tracking devices (i.e., Lagrangian sampling). Integration of observations obtained from Eulerian and Lagrangian perspectives can provide insights into animal movement and habitat use. However, contemporaneous data from both perspectives are rarely available, making examination of biases associated with each sampling approach difficult. We compared distributions of a mobile seabird observed concurrently from ship, aerial, and satellite tag surveys during May, June, and July 2012 in the northern California Current. We calculated utilization distributions to quantify and compare variability in common murre (Uria aalge) space use and examine how sampling perspective and platform influence observed patterns. Spatial distributions of murres were similar in May, regardless of sampling perspective. Greatest densities occurred in coastal waters off southern Washington and northern Oregon, near large murre colonies and the mouth of the Columbia River. Density distributions of murres estimated from ship and aerial surveys in June and July were similar to those observed in May, whereas distributions of satellite-tagged murres in June and July indicated northward movement into British Columbia, Canada, resulting in different patterns observed from Eulerian and Lagrangian perspectives. These results suggest that the population of murres observed in the northern California Current during spring and summer includes relatively stationary individuals attending breeding colonies and nonstationary, vagile adults and subadults. Given the expected growth of telemetry studies and advances in survey technology (e.g., unmanned aerial systems), these results highlight the importance of considering methodological approaches, spatial extent, and synopticity of distribution data sets prior to integrating data from different sampling perspectives.

18.
J Natl Med Assoc ; 111(3): 296-301, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30449542

RESUMEN

BACKGROUND: Each year in the United States (US), one million adolescents are pregnant, of which approximately 20% are repeat pregnancies. Adolescent motherhood is associated with lower educational attainment, socioeconomic status and poorer health outcomes. A mentoring program called the Maikuru Program conducted from 2011 to 2015, was designed to teach young mothers under 20 years old how to face daily life challenges, to support them by pairing them with an adult mentor, and prevent a subsequent pregnancy during their teens. The goal of the present study was to examine educational attainment, employment and pregnancies of these adolescent mothers 1-5 years post program. METHODS: Former participants of the Maikuru Program were contacted by telephone and/or Facebook in 2016 to conduct a survey about education attainment, employment status, number of subsequent children delivered, and satisfaction with the program. RESULTS: Nineteen of 51 participants (37%) were reached to complete the survey. Of those who responded, all were in high school or had graduated, nearly half were pursuing some form of higher education and 12 (63%) were currently employed. Nine mothers had given birth to another child; only two (10.5%) were known to be less than 20 years old at the time. All participants reported positive perceptions of the program and would recommend it to other adolescent mothers. CONCLUSION: Educational achievement and employment were high among a modest proportion of adolescent mothers who had participated in a culturally tailored, teen mother-adult mentoring program. Repeat teen pregnancy was infrequent and the mentoring program was perceived as contributing to the success of those who responded to the follow-up. A future randomized trial based on this model may confirm these findings.


Asunto(s)
Tutoría/métodos , Embarazo en Adolescencia/prevención & control , Adolescente , Negro o Afroamericano/psicología , Negro o Afroamericano/estadística & datos numéricos , Factores de Edad , Escolaridad , Empleo/estadística & datos numéricos , Femenino , Humanos , Entrevistas como Asunto , Pennsylvania , Embarazo , Evaluación de Programas y Proyectos de Salud , Adulto Joven
19.
J Cyst Fibros ; 18(1): 54-63, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30146269

RESUMEN

BACKGROUND: Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy. METHODS: Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA analysis by Inno-LiPa (35 mutations), extended gene analysis (EGA) as fourth step and as safety net. Only samples with two CFTR-variants were considered screen-positive, but samples with one disease-causing variant were considered also screen-positive from April 2013. The first 5 years of NBSCF were evaluated during a follow-up ranging from 2 to 6.8 years for sensitivity, specificity, positive predictive value (PPV), ratio of CF/Cystic Fibrosis Screen Positive infants with an Inconclusive Diagnosis (CFSPID) and median age at diagnosis, and were compared to other novel strategies for NBSCF and European Cystic Fibrosis Society (ECFS) Best Practice Standards of Care. RESULTS: NBSCF achieved a sensitivity of 90% (95% CI 82%-94%), specificity of 99.991% (95% CI 99.989%-99.993%), PPV of 63% (95% CI 55%-69%), CF/CFSPID ratio of 4/1, and median age at diagnosis of 22 days, if samples with two variants as well as samples with one disease-causing variant were considered screen-positive. CONCLUSION: The program achieved the goal to minimize the number of false positives and showed a favourable performance but sensitivity and CF/CFSPID ratio did not meet criteria of EFCS Best Standards of Care. Changed cut-off values for PAP and IRT and classification of R117H-7T/9T to non-pathogenic may improve sensitivity to ≥95% and CF/CFSPID ratio to 10/1. PPV is estimated to be around 60%.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/diagnóstico , Tamización de Portadores Genéticos/métodos , Guías como Asunto , Mutación , Tamizaje Neonatal/normas , Sistema de Registros , Biomarcadores/sangre , Fibrosis Quística/sangre , Fibrosis Quística/epidemiología , Regulador de Conductancia de Transmembrana de Fibrosis Quística/análisis , Análisis Mutacional de ADN , Femenino , Humanos , Recién Nacido , Masculino , Países Bajos/epidemiología , Curva ROC , Reproducibilidad de los Resultados
20.
PLoS One ; 12(11): e0187452, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29099867

RESUMEN

In this study, we assess the precision, accuracy, and repeatability of craniodental landmarks (Types I, II, and III, plus curves of semilandmarks) on a single macaque cranium digitally reconstructed with three different surface scanners and a microCT scanner. Nine researchers with varying degrees of osteological and geometric morphometric knowledge landmarked ten iterations of each scan (40 total) to test the effects of scan quality, researcher experience, and landmark type on levels of intra- and interobserver error. Two researchers additionally landmarked ten specimens from seven different macaque species using the same landmark protocol to test the effects of the previously listed variables relative to species-level morphological differences (i.e., observer variance versus real biological variance). Error rates within and among researchers by scan type were calculated to determine whether or not data collected by different individuals or on different digitally rendered crania are consistent enough to be used in a single dataset. Results indicate that scan type does not impact rate of intra- or interobserver error. Interobserver error is far greater than intraobserver error among all individuals, and is similar in variance to that found among different macaque species. Additionally, experience with osteology and morphometrics both positively contribute to precision in multiple landmarking sessions, even where less experienced researchers have been trained in point acquisition. Individual training increases precision (although not necessarily accuracy), and is highly recommended in any situation where multiple researchers will be collecting data for a single project.


Asunto(s)
Recolección de Datos/normas , Imagenología Tridimensional/normas , Microtomografía por Rayos X/normas , Animales , Macaca , Masculino , Variaciones Dependientes del Observador , Cráneo/anatomía & histología , Cráneo/diagnóstico por imagen , Especificidad de la Especie
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