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1.
Adv Skin Wound Care ; 33(2): 91-97, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31972581

RESUMEN

OBJECTIVE: To develop and implement a point-of-care digital solution to streamline the creation and maintenance of wound care product formularies and promote cost-effective wound management. METHODS: Researchers used Design Thinking methodology to develop the Formulary Module, a point-of-care digital solution within a clinical and reimbursement decision support web application for wound care and hyperbaric clinicians. The module was implemented in a US hospital-based outpatient wound clinic as follows: A baseline list of products was established, with brands automatically grouped by product category. Brands within each dressing category were compared, and redundancy eliminated. Study authors assessed the financial impact of formulary implementation in the wound clinic by comparing inventory expenditure before and after implementation. RESULTS: Implementation of the digital Formulary Module resulted in a 36% decrease in products (67 to 43 across 22 types), 38.73% decrease in the monthly average dollar spent on chargeable products, 29.56% decrease in the average dollar amount spent on chargeable products per patient visit, and increased staff efficiency. CONCLUSIONS: The Formulary Module has the potential to increase the adoption of cost-effective practices in wound care significantly.

2.
J Clin Endocrinol Metab ; 105(1)2020 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-31872862

RESUMEN

CONTEXT: Single-minded homologue 1 (SIM1) is a transcription factor with several physiological and developmental functions. Haploinsufficiency of SIM1 is associated with early-onset obesity with or without Prader-Willi-like (PWL) features and may exhibit incomplete penetrance. CASE DESCRIPTION: Next-generation sequencing was performed for 2 male patients with obesity, including 1 man presenting with intellectual disability (ID), body mass index (BMI) of 47.4, and impulse-control disorder, and the other man with early obesity (BMI of 36); sequencing revealed a missense variant in SIM1 (c.2144G>T; p.G715V) in both individuals. Previous studies have identified several disease-associated variants that fall near the p.G715V variant within the C-terminal domain of SIM1. We examined p.G715V variant stability and activity in a doxycycline-inducible stable cell line transfected with an artificial reporter construct and either ARNT or ARNT2 as a partner protein. CONCLUSIONS: Functional testing of the p.G715V variant revealed a significant reduction in SIM1-mediated transcriptional activity. We also generated the first ab initio hybrid protein model for full-length SIM1 to show the predicted spatial relationship between p.G715V and other previously described variants in this region and identified a putative mutation hotspot within the C-terminus. Significant clinical heterogeneity has been observed in patients with SIM1 variants, particularly with regards to the PWL phenotype. In the patient with ID, a second variant of uncertain significance in CHD2 was identified that may contribute to his ID and behavioral disturbances, emphasizing the role of additional genetic modifiers.

3.
Mol Microbiol ; 112(5): 1552-1563, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31461569

RESUMEN

OLE RNAs represent an unusual class of bacterial noncoding RNAs common in Gram-positive anaerobes. The OLE RNA of the alkaliphile Bacillus halodurans is highly expressed and naturally interacts with at least two RNA-binding proteins called OapA and OapB. The phenotypes of the corresponding knockouts include growth inhibition when exposed to ethanol or other short-chain alcohols or when incubated at modestly reduced temperatures (e.g. 20°C). Intriguingly, the OapA 'PM1' mutant, which carries two amino acid changes to a highly conserved region, yields a dominant-negative phenotype that causes more severe growth defects under these same stress conditions. Herein, we report that the PM1 strain also exhibits extreme sensitivity to elevated Mg2+ concentrations, beginning as low as 2 mM. Suppressor mutants predominantly map to genes for aconitate hydratase and isocitrate dehydrogenase, which are expected to alter cellular citrate concentrations. Citrate reduces the severity of the Mg2+ toxicity phenotype, but neither the genomic mutations nor the addition of citrate to the medium overcomes ethanol toxicity or temperature sensitivity. These findings reveal that OLE RNA and its protein partners are involved in biochemical responses under several stress conditions, wherein the unusual sensitivity to Mg2+ can be independently suppressed by specific genomic mutations.

4.
Stud Health Technol Inform ; 257: 526-539, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30741251

RESUMEN

Studies often rely on medical record abstraction as a major source of data. However, data quality from medical record abstraction has long been questioned. Electronic Health Records (EHRs) potentially add variability to the abstraction process due to the complexity of navigating and locating study data within these systems. We report training for and initial quality assessment of medical record abstraction for a clinical study conducted by the IDeA States Pediatric Clinical Trials Network (ISPCTN) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Neonatal Research Network (NRN) using medical record abstraction as the primary data source. As part of overall quality assurance, study-specific training for medical record abstractors was developed and deployed during study start-up. The training consisted of a didactic session with an example case abstraction and an independent abstraction of two standardized cases. Sixty-nine site abstractors from thirty sites were trained. The training was designed to achieve an error rate for each abstractor of no greater than 4.93% with a mean of 2.53%, at study initiation. Twenty-three percent of the trainees exceeded the acceptance limit on one or both of the training test cases, supporting the need for such training. We describe lessons learned in the design and operationalization of the study-specific, medical record abstraction training program.


Asunto(s)
Errores Médicos , Registros Médicos , Niño , Humanos , Almacenamiento y Recuperación de la Información , Proyectos de Investigación
5.
J Gen Intern Med ; 34(4): 591-597, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30091121

RESUMEN

BACKGROUND: Despite widespread implementation of mammographic breast density (MBD) notification laws, the impact of these laws on knowledge of MBD and knowledge of breast cancer risk is limited by the lack of tools to promote informed decision-making in practice. OBJECTIVE: To develop and evaluate whether brief, personalized informational videos following a normal mammogram in addition to a legislatively required letter about MBD result can improve knowledge of MBD and breast cancer risk compared to standard care (i.e., legislatively required letter about MBD included with the mammogram result). DESIGN/PARTICIPANTS: Prospective randomized controlled trial of English-speaking women, age 40-74 years, without prior history of breast cancer, receiving a screening mammogram with a normal or benign finding (intervention group n = 235, control group n = 224). INTERVENTION: brief (3-5 min) video, personalized to a woman's MBD result and breast cancer risk. MAIN MEASURES: Primary outcomes were a woman's knowledge of her MBD and risk of breast cancer. Secondary outcomes included whether a woman reported that she discussed the results of her mammogram with her primary care provider (PCP). KEY RESULTS: Relative to women in the control arm, women in the intervention arm had greater improvement in their knowledge of both their personal MBD (intervention pre/post 39.2%/ 77.5%; control pre/post 36.2%/ 37.5%; odds ratio (OR) 5.34 for change for intervention vs. control, 95% confidence interval (CI) 3.87-7.36; p < 0.001) and risk of breast cancer (intervention pre/post: 66.8%/74.0%; control pre/post 67.9%/ 65.2%; OR 1.42, 95% confidence interval (CI) 1.09-1.84; p = 0.01). Women in the intervention group were more likely than those in the control group to report discussing the results of their mammogram with their PCP (p = 0.05). CONCLUSIONS: Brief, personalized videos following mammography can improve knowledge of MBD and personal risk of breast cancer compared to a legislatively mandated informational letter. Trial Registration Clinicaltrials.gov (NCT02986360).

6.
J Gen Intern Med ; 33(10): 1729-1737, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30076569

RESUMEN

BACKGROUND: Use of breast cancer screening is influenced by factors associated with patients, primary care providers, practices, and health systems. OBJECTIVE: We examined the relative effects of these nested levels on four breast cancer screening metrics. DESIGN: A web-based survey was completed at 15 primary care practices within two health systems representing 306 primary care providers (PCPs) serving 46,944 women with a primary care visit between 1/2011-9/2014. Analyses occurred between 1/2017 and 5/2017. MAIN MEASURES: Across four nested levels (patient, PCP, primary care practice, and health system), frequency distributions and adjusted rates of primary care practice characteristics and survey results for four breast screening metrics (percent screened overall, and percent screened age 40-49, 50-74, and 75+) were reported. We used hierarchical multi-level mixed and random effects analysis to assess the relative influences of PCP, primary care practice, and health system on the breast screening metrics. KEY RESULTS: Overall, the proportion of women undergoing breast cancer screening was 73.1% (73.4% for ages 40-49, 76.5% for 50-74, and 51.1% for 75+). Patient ethnicity and number of primary care visits were strongly associated with screening rates. After adjusting for woman-level factors, 24% of the overall variation among PCPs was attributable to the primary care practice level, 35% to the health system level, and 41% to the residual variation among PCPs within practice. No specific provider-level characteristics were found to be statistically significant determinants of screening rates. CONCLUSIONS: After accounting for woman-level characteristics, the remaining variation in breast cancer screening was largely due to provider and health system variation.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Detección Precóz del Cáncer/métodos , Atención Primaria de Salud/organización & administración , Adulto , Anciano , Anciano de 80 o más Años , Detección Precóz del Cáncer/estadística & datos numéricos , Femenino , Encuestas de Atención de la Salud , Humanos , Mamografía , Tamizaje Masivo/métodos , Tamizaje Masivo/organización & administración , Tamizaje Masivo/estadística & datos numéricos , Massachusetts , Persona de Mediana Edad , New Hampshire , Atención Primaria de Salud/estadística & datos numéricos , Práctica Profesional/estadística & datos numéricos
7.
Microbiol Spectr ; 6(4)2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29992899

RESUMEN

Bacterial noncoding RNA (ncRNA) classes longer than 200 nucleotides are rare but are responsible for performing some of the most fundamental tasks in living cells. RNAs such as 16S and 23S rRNA, group I and group II introns, RNase P ribozymes, transfer-messenger RNAs, and coenzyme B12 riboswitches are diverse in structure and accomplish biochemical functions that rival the activities of proteins. Over the last decade, a number of new classes of large ncRNAs have been uncovered in bacteria. A total of 21 classes with no established functions have been identified through the use of bioinformatics search strategies. Based on precedents for bacterial large ncRNAs performing sophisticated functions, it seems likely that some of these structured ncRNAs also will prove to carry out complex functions. Thus, determining their roles will provide a better understanding of fundamental biological processes. A few studies have produced data that provide clues to the purposes of some of these recently found classes, but the true functions of most classes remain mysterious.


Asunto(s)
Bacterias/genética , Bacterias/metabolismo , Fenómenos Fisiológicos Bacterianos , ARN no Traducido/clasificación , ARN no Traducido/fisiología , Secuencia de Bases , Biología Computacional , Regulación Bacteriana de la Expresión Génica , Conformación de Ácido Nucleico , ARN Bacteriano/genética , ARN Bacteriano/fisiología , ARN no Traducido/genética
8.
Anal Bioanal Chem ; 410(24): 6247-6255, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29980807

RESUMEN

The noble gases, namely neon, argon, krypton and xenon, have many uses including in incandescent and gas discharge lighting, in plasma televisions, shielding gas in welding, in lasers for surgery and semiconductors, and in magnetic resonance imaging (MRI) of the lungs. When incorporating these noble gases in industries, especially the medical field, it is important to know accurately the composition of the noble gas mixture. Therefore, there is a need for accurate gas standards that can be used to determine the noble gas amount-of-substance fraction in the appropriate mixture application. A recent comparison of mixtures containing four noble gases in a helium balance showed mixed results among National Metrology Institutes. Significant differences, 0.7 to 3.8% relative, were seen in the analytical amount-of-substance assignments versus the gravimetric value of the noble gases in the comparison mixture when using "binary standards", i.e. neon in helium, argon in helium and krypton in helium, as applied by the National Institute of Standards and Technology. Post-comparison studies showed that when all four noble gases were included in the standards, the agreement between analytical and gravimetric values was within 0.05% relative. Further research revealed that different carrier gases (hydrogen, helium and nitrogen) resulted in varying differences between the analytical and gravimetric values assignments. This paper will discuss the findings of these analytical comparisons. Graphical abstract ᅟ.

9.
Proc Natl Acad Sci U S A ; 115(27): E6319-E6328, 2018 07 03.
Artículo en Inglés | MEDLINE | ID: mdl-29915070

RESUMEN

OLE (ornate, large, extremophilic) RNAs comprise a class of structured noncoding RNAs (ncRNAs) found in many extremophilic bacteria species. OLE RNAs constitute one of the longest and most widespread bacterial ncRNA classes whose major biochemical function remains unknown. In the Gram-positive alkaliphile Bacillus halodurans, OLE RNA is abundant, and localizes to the cell membrane by association with the transmembrane OLE-associated protein called OapA (formerly OAP). These characteristics, along with the well-conserved sequence and structural features of OLE RNAs, suggest that the OLE ribonucleoprotein (RNP) complex performs important biological functions. B. halodurans strains lacking OLE RNA (∆ole) or OapA (∆oapA) are less tolerant of cold (20 °C) and short-chain alcohols (e.g., ethanol). Here, we describe the effects of a mutant OapA (called PM1) that more strongly inhibits growth under cold or ethanol stress compared with strains lacking the oapA gene, even when wild-type OapA is present. This dominant-negative effect of PM1 is reversed by mutations that render OLE RNA nonfunctional. This finding demonstrates that the deleterious PM1 phenotype requires an intact RNP complex, and suggests that the complex has one or more additional undiscovered components. A genetic screen uncovered PM1 phenotype suppressor mutations in the ybzG gene, which codes for a putative RNA-binding protein of unknown biological function. We observe that YbzG protein (also called OapB) selectively binds OLE RNA in vitro, whereas a mutant version of the protein is not observed to bind OLE RNA. Thus, YbzG/OapB is an important component of the functional OLE RNP complex in B. halodurans.


Asunto(s)
Bacillus , Proteínas Bacterianas , Farmacorresistencia Bacteriana , Etanol/farmacología , Proteínas de Unión al ARN , Bacillus/genética , Bacillus/metabolismo , Proteínas Bacterianas/genética , Proteínas Bacterianas/metabolismo , Farmacorresistencia Bacteriana/efectos de los fármacos , Farmacorresistencia Bacteriana/genética , Proteínas de Unión al ARN/genética , Proteínas de Unión al ARN/metabolismo
10.
Am J Hum Genet ; 102(4): 696-705, 2018 04 05.
Artículo en Inglés | MEDLINE | ID: mdl-29606302

RESUMEN

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1-/- mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. In this study, we describe four individuals from three unrelated families that presented with a unique constellation of clinical findings including joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features reminiscent of Ehlers-Danlos syndrome (EDS). Analysis of skin biopsies revealed decreased dermal collagen with abnormal collagen fibrils that were ragged in appearance. Exome sequencing revealed compound heterozygous variants in AEBP1 (c.1470delC [p.Asn490_Met495delins(40)] and c.1743C>A [p.Cys581∗]) in the first individual, a homozygous variant (c.1320_1326del [p.Arg440Serfs∗3]) in the second individual, and a homozygous splice site variant (c.1630+1G>A) in two siblings from the third family. We show that ACLP enhances collagen polymerization and binds to several fibrillar collagens via its discoidin domain. These studies support the conclusion that bi-allelic pathogenic variants in AEBP1 are the cause of this autosomal-recessive EDS subtype.


Asunto(s)
Alelos , Carboxipeptidasas/genética , Colágeno/metabolismo , Tejido Conectivo/patología , Síndrome de Ehlers-Danlos/genética , Mutación/genética , Proteínas Represoras/genética , Adulto , Secuencia de Aminoácidos , Carboxipeptidasas/química , Niño , Preescolar , Femenino , Fibroblastos/metabolismo , Fibroblastos/patología , Humanos , Masculino , Dominios Proteicos , ARN Mensajero/genética , ARN Mensajero/metabolismo , Proteínas Represoras/química , Piel/patología , Piel/ultraestructura , Adulto Joven
11.
Public Health Nurs ; 35(4): 353-359, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29566271

RESUMEN

OBJECTIVES: A community-academic team implemented a study involving collection of quantitative data using a computer-based audience response system (ARS) whereby community partners led data collection efforts. The team participated in a reflection exercise after the data collection to evaluate and identify best practices and lessons learned about the community partner-led process. DESIGN & SAMPLE: The methods involved a qualitative research consultant who facilitated the reflection exercise that consisted of two focus groups-one academic and one community research team members. The consultant then conducted content analysis. Nine members participated in the focus groups. RESULTS: The reflection identified the following themes: the positive aspects of the ARS; challenges to overcome; and recommendations for the future. CONCLUSION: The lessons learned here can help community-academic research partnerships identify the best circumstances in which to use ARS for data collection and practical steps to aid in its success.


Asunto(s)
Investigación Participativa Basada en la Comunidad/métodos , Recolección de Datos/métodos , Grupos Focales/métodos , Relaciones Comunidad-Institución , Procesamiento Automatizado de Datos/métodos , Ejercicio , Humanos , Investigación Cualitativa
12.
Anal Chem ; 90(7): 4711-4718, 2018 04 03.
Artículo en Inglés | MEDLINE | ID: mdl-29498261

RESUMEN

There are many gas phase compounds present in the atmosphere that affect and influence the earth's climate. These compounds absorb and emit radiation, a process which is the fundamental cause of the greenhouse effect. The major greenhouse gases in the earth's atmosphere are carbon dioxide, methane, nitrous oxide, and ozone. Some halocarbons are also strong greenhouse gases and are linked to stratospheric ozone depletion. Hydrocarbons and monoterpenes are precursors and contributors to atmospheric photochemical processes, which lead to the formation of particulates and secondary photo-oxidants such as ozone, leading to photochemical smog. Reactive gases such as nitric oxide and sulfur dioxide are also compounds found in the atmosphere and generally lead to the formation of other oxides. These compounds can be oxidized in the air to acidic and corrosive gases and contribute to photochemical smog. Measurements of these compounds in the atmosphere have been ongoing for decades to track growth rates and assist in curbing emissions of these compounds into the atmosphere. To accurately establish mole fraction trends and assess the role of these gas phase compounds in atmospheric chemistry, it is essential to have good calibration standards. The National Institute of Standards and Technology has been developing standards of many of these compounds for over 40 years. This paper discusses the development of these standards.

13.
Contemp Clin Trials ; 64: 22-29, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29170075

RESUMEN

Rural African Americans are disproportionately exposed to numerous stressors such as poverty that place them at risk for experiencing elevated levels of depressive symptoms. Effective treatments for decreasing depressive symptoms exist, but rural African Americans often fail to receive adequate and timely care. Churches have been used to address physical health outcomes in rural African American communities, but few have focused primarily on addressing mental health outcomes. Our partnership, consisting of faith community leaders and academic researchers, adapted an evidence-based behavioral activation intervention for use with rural African American churches. This 8-session intervention was adapted to include faith-based themes, Scripture, and other aspects of the rural African American faith culture (e.g. bible studies) This manuscript describes a Hybrid-II implementation trial that seeks to test the effectiveness of the culturally adapted evidence-based intervention (Renewed and Empowered for the Journey to Overcome in Christ: REJOICE) and gather preliminary data on the strategies necessary to support the successful implementation of this intervention in 24 rural African American churches. This study employs a randomized one-way crossover cluster design to assess effectiveness in reducing depressive symptoms and gather preliminary data regarding implementation outcomes, specifically fidelity, associated with 2 implementation strategies: training only and training+coaching calls. This project has the potential to generate knowledge that will lead to improvements in the provision of mental health interventions within the rural African American community. Further, the use of the Hybrid-II design has the potential to advance our understanding of strategies that will support the implementation of and sustainability of mental health interventions within rural African American faith communities. TRIAL REGISTRATION: NCT02860741. Registered August 5, 2016.


Asunto(s)
Afroamericanos , Terapia Conductista/métodos , Depresión/terapia , Organizaciones Religiosas/organización & administración , Promoción de la Salud/organización & administración , Población Rural , Servicios de Salud Comunitaria/organización & administración , Estudios Cruzados , Competencia Cultural , Depresión/etnología , Femenino , Humanos , Masculino , Proyectos de Investigación , Sudeste de Estados Unidos
14.
RNA Biol ; 15(3): 377-390, 2018 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-29135333

RESUMEN

Orphan riboswitch candidates are noncoding RNA motifs whose representatives are believed to function as genetic regulatory elements, but whose target ligands have yet to be identified. The study of certain orphans, particularly classes that have resisted experimental validation for many years, has led to the discovery of important biological pathways and processes once their ligands were identified. Previously, we highlighted details for four of the most common and intriguing orphan riboswitch candidates. This facilitated the validation of riboswitches for the signaling molecules c-di-AMP, ZTP, and ppGpp, the metal ion Mn2+, and the metabolites guanidine and PRPP. Such studies also yield useful linkages between the ligands sensed by the riboswitches and numerous biochemical pathways. In the current report, we describe the known characteristics of 30 distinct classes of orphan riboswitch candidates - some of which have remained unsolved for over a decade. We also discuss the prospects for uncovering novel biological insights via focused studies on these RNAs. Lastly, we make recommendations for experimental objectives along the path to finding ligands for these mysterious RNAs.


Asunto(s)
Bacterias/genética , ARN Mensajero/química , Riboswitch , Levaduras/genética , Secuencias de Aminoácidos , Aptámeros de Nucleótidos , Ligandos , Modelos Moleculares , Conformación de Ácido Nucleico , ARN Bacteriano/química , ARN de Hongos/química
15.
Prog Community Health Partnersh ; 11(1): 81-86, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28603154

RESUMEN

BACKGROUND: Academic partners typically build community capacity for research, but few examples exist whereby community partners build community research capacity. This paper describes the benefits of communities sharing their "best practices" with each other for the purpose of building health research capacity. METHODS: In the context of a grant designed to engage African American communities to address health disparities (Faith Academic Initiatives Transforming Health [FAITH] in the Delta), leaders of two counties exchanged their "best practices" of creating faith-based networks and community health assessment tools to conduct a collective health assessment. LESSONS LEARNED: There were numerous strengths in engaging communities to build each other's capacity to conduct research. Communities identified with each other, perceived genuineness, conveyed legitimacy, and provided insider knowledge. CONCLUSIONS: Engaging communities to build each other's research capacity is a potentially valuable strategy.


Asunto(s)
Afroamericanos , Creación de Capacidad/organización & administración , Redes Comunitarias/organización & administración , Investigación Participativa Basada en la Comunidad , Relaciones Comunidad-Institución , Promoción de la Salud/organización & administración , Arkansas , Disparidades en el Estado de Salud , Humanos , Población Rural
16.
Cancer Med ; 6(5): 1102-1107, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28378409

RESUMEN

Digital breast tomosynthesis (DBT) has shown potential to improve breast cancer screening and diagnosis compared to digital mammography (DM). The FDA approved DBT use in conjunction with conventional DM in 2011, but coverage was approved by CMS recently in 2015. Given changes in coverage policies, it is important to monitor diffusion of DBT by insurance type. This study examined DBT trends and estimated associations with insurance type. From June 2011 to September 2014, DBT use in 22 primary care centers in the Dartmouth -Brigham and Women's Hospital Population-based Research Optimizing Screening through Personalized Regimens research center (PROSPR) was examined among women aged 40-89. A longitudinal repeated measures analysis estimated the proportion of DBT performed for screening or diagnostic indications over time and by insurance type. During the study period, 93,182 mammograms were performed on 48,234 women. Of these exams, 16,506 DBT tests were performed for screening (18.1%) and 2537 were performed for diagnosis (15.7%). Between 2011 and 2014, DBT utilization increased in all insurance groups. However, by the latest observed period, screening DBT was used more frequently under private insurance (43.4%) than Medicaid (36.2%), Medicare (37.8%), other (38.6%), or no insurance (32.9%; P < 0.0001). No sustained differences in use of DBT for diagnostic testing were seen by insurance type. DBT is increasingly used for breast cancer screening and diagnosis. Use of screening DBT may be associated with insurance type. Surveillance is required to ensure that disparities in breast cancer screening are minimized as DBT becomes more widely available.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Mamografía , Adulto , Anciano , Anciano de 80 o más Años , Detección Precóz del Cáncer , Femenino , Humanos , Seguro de Salud , Mamografía/estadística & datos numéricos , Medicaid , Medicare , Persona de Mediana Edad , Atención Primaria de Salud , Estados Unidos
17.
J Clin Neuromuscul Dis ; 18(3): 152-156, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28221306

RESUMEN

Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy. Follow-up genetic testing revealed a p.Glu384Lys pathogenic variant in TIA-1, and he was then diagnosed with Welander distal myopathy. Our case report underlines the importance of electrodiagnostic and genetic testing of patients.


Asunto(s)
Miopatias Distales/diagnóstico , Exoma , Atrofia Muscular/diagnóstico , Miopatias Distales/genética , Electrodiagnóstico , Pruebas Genéticas , Humanos , Masculino , Persona de Mediana Edad , Atrofia Muscular/genética , Mutación
18.
Am J Manag Care ; 23(1): 35-40, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28141929

RESUMEN

OBJECTIVES: Breast cancer screening guidelines and metrics are inconsistent with each other and may differ from breast screening practice patterns in primary care. This study measured breast cancer screening practice patterns in relation to common evidence-based guidelines and accountability metrics. STUDY DESIGN: Cohort study using primary data collected from a regional breast cancer screening research network between 2011 and 2014. METHODS: Using information on women aged 30 to 89 years within 21 primary care practices of 2 large integrated health systems in New England, we measured the proportion of women screened overall and by age using 2 screening definition categories: any mammogram and screening mammogram. RESULTS: Of the 81,352 women in our cohort, 54,903 (67.5%) had at least 1 mammogram during the time period, 48,314 (59.4%) had a screening mammogram. Women aged 50 to 69 years were the highest proportion screened (82.4% any mammogram, 75% screening indication); 72.6% of women at age 40 had a screening mammogram with a median of 70% (range = 54.3%-84.8%) among the practices. Of women aged at least 75 years, 63.3% had a screening mammogram, with the median of 63.9% (range = 37.2%-78.3%) among the practices. Of women who had 2 or more mammograms, 79.5% were screened annually. CONCLUSIONS: Primary care practice patterns for breast cancer screening are not well aligned with some evidence-based guidelines and accountability metrics. Metrics and incentives should be designed with more uniformity and should also include shared decision making when the evidence does not clearly support one single conclusion.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Detección Precóz del Cáncer/normas , Mamografía/normas , Tamizaje Masivo/normas , Guías de Práctica Clínica como Asunto , Pautas de la Práctica en Medicina/normas , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/patología , Estudios de Cohortes , Detección Precóz del Cáncer/métodos , Femenino , Humanos , Mamografía/métodos , Tamizaje Masivo/métodos , Persona de Mediana Edad , Atención Primaria de Salud , Medición de Riesgo , Sensibilidad y Especificidad , Responsabilidad Social
19.
J Gen Intern Med ; 32(4): 449-457, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28070772

RESUMEN

BACKGROUND: Revised breast cancer screening guidelines have fueled debate about the effectiveness and frequency of screening mammography, encouraging discussion between women and their providers. OBJECTIVE: To examine whether primary care providers' (PCPs') beliefs about the effectiveness and frequency of screening mammography are associated with utilization by their patients. DESIGN: Cross-sectional survey data from PCPs (2014) from three primary care networks affiliated with the Population-based Research Optimizing Screening through Personalized Regimens (PROSPR) consortium, linked with data about their patients' mammography use (2011-2014). PARTICIPANTS: PCPs (n = 209) and their female patients age 40-89 years without breast cancer (n = 30,233). MAIN MEASURES: Outcomes included whether (1) women received a screening mammogram during a 2-year period; and (2) screened women had >1 mammogram during that period, reflecting annual screening. Principal independent variables were PCP beliefs about the effectiveness of mammography and their recommendations for screening frequency. KEY RESULTS: Overall 65.2% of women received >1 screening mammogram. For women 40-48 years, mammography use was modestly lower for those cared for by PCPs who believed that screening was ineffective compared with those who believed it was somewhat or very effective (59.1%, 62.3%, and 64.7%; p = 0.019 after controlling for patient characteristics). Of women with PCPs who reported they did not recommend screening before age 50, 48.1% were nonetheless screened. For women age 49-74 years, the vast majority were cared for by providers who believed that screening was effective. Provider recommendations were not associated with screening frequency. For women ≥75 years, those cared for by providers who were uncertain about effectiveness had higher screening use (50.7%) than those cared for by providers who believed it was somewhat effective (42.8%). Patients of providers who did not recommend screening were less likely to be screened than were those whose providers recommended annual screening, yet 37.1% of patients whose providers recommended against screening still received screening. CONCLUSIONS: PCP beliefs about mammography effectiveness and screening recommendations are only modestly associated with use, suggesting other likely influences on patient participation in mammography.


Asunto(s)
Actitud del Personal de Salud , Neoplasias de la Mama/diagnóstico por imagen , Detección Precóz del Cáncer/estadística & datos numéricos , Mamografía/estadística & datos numéricos , Atención Primaria de Salud/organización & administración , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Estudios Transversales , Detección Precóz del Cáncer/métodos , Femenino , Humanos , Persona de Mediana Edad , Relaciones Médico-Paciente , Médicos de Atención Primaria/psicología , Práctica Profesional/estadística & datos numéricos , Estados Unidos
20.
J Am Coll Radiol ; 14(2): 198-207.e2, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27744009

RESUMEN

PURPOSE: To assess indication for examination for four breast imaging modalities and describe the complexity and heterogeneity of data sources and ascertainment methods. METHODS: Indication was evaluated among the Population-based Research Optimizing Screening through Personalized Regimens (PROSPR) breast cancer research centers (PRCs). Indication data were reported overall and separately for four breast imaging modalities: digital mammography (DM), digital breast tomosynthesis (DBT), ultrasound (US), and magnetic resonance imaging (MRI). RESULTS: The breast PRCs contributed 236,262 women with 607,735 breast imaging records from 31 radiology facilities. We found a high degree of heterogeneity for indication within and across six data sources. Structured codes within a data source were used most often to identify indication for mammography (59% DM, 85% DBT) and text analytics for US (45%) and MRI (44%). Indication could not be identified for 17% of US and 26% of MRI compared with 2% of mammography examinations (1% DM, 3% DBT). CONCLUSIONS: Multiple and diverse data sources, heterogeneity of ascertainment methods, and nonstandardization of codes within and across data systems for determining indication were found. Consideration of data sources and standardized methodology for determining indication is needed to assure accurate measurement of cancer screening rates and performance in clinical practice and research.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Detección Precóz del Cáncer/estadística & datos numéricos , Detección Precóz del Cáncer/normas , Mamografía/estadística & datos numéricos , Mamografía/normas , Guías de Práctica Clínica como Asunto , Neoplasias de la Mama/epidemiología , Detección Precóz del Cáncer/métodos , Femenino , Adhesión a Directriz/estadística & datos numéricos , Humanos , Mamografía/métodos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Estados Unidos/epidemiología
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