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Introduction The value of family health history as a means to understanding health risk has been long known. Its value in a precision medicine context is also now becoming apparent. General practitioners (GPs) are considered to play a key role in the collection, and investigation, of family health history, but it remains widely reported as being both poorly and infrequently undertaken. Little is known about this practice in Aotearoa New Zealand (NZ). Aim This study aimed to explore current practices in relation to the ascertainment of family health history, with a view towards precision medicine. Methods Semi-structured interviews were conducted with 10 GPs recruited from one urban area of NZ. The interviews were subjected to a thematic analysis. Results Family health history information was used to varying degrees in four areas - risk ascertainment, patient engagement with a diagnosis, social context and building relationships. Patient cultural considerations were rarely mentioned. Reliability of information provided by patients, resource constraints, context driven consults and electronic health record limitations are potential indicators of current limits of family health history. Discussion Our findings present a baseline of current practice and echo larger studies from overseas. As precision medicine is not yet routine, a unique opportunity exists for consideration to be given to establishing specific roles within the NZ health system to enable equitable practice of, and subsequent health gains from, the use of family/whanau health history information as part of precision medicine.
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Medicina General , Médicos Generales , Humanos , Nueva Zelanda , Reproducibilidad de los Resultados , Medicina Familiar y Comunitaria , Investigación CualitativaRESUMEN
BACKGROUND: Cystic Fibrosis (CF) is a hereditary pulmonary and extra-pulmonary disease that occurs equally in men and women. However, a difference in morbidity and mortality rates between the sexes has been long documented. Similarly, a sex-disparity in disease severity has been reported in asthma as well. Studies done to date point to estrogen as a possible cause of this sex disparity in pulmonary outcomes in both conditions. CASE PRESENTATION: Here, we describe a case of a patient with CF and asthma/allergic bronchopulmonary aspergillosis (ABPA) undergoing sex reassignment therapy (male-to-female) and the negative impact it had on her lung function and frequency of pulmonary exacerbations in the context of increasing doses of exogenous estrogen. CONCLUSIONS: This case raises the possibility of a link between estrogen and worsening pulmonary outcomes and the need for further studies into transgender individuals with CF and/or asthma/ABPA as well as those undergoing high dose estrogen therapy for other indications.
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Aspergilosis Broncopulmonar Alérgica/complicaciones , Asma/complicaciones , Fibrosis Quística/complicaciones , Estrógenos/efectos adversos , Pulmón/fisiopatología , Aspergilosis Broncopulmonar Alérgica/fisiopatología , Asma/fisiopatología , Fibrosis Quística/fisiopatología , Estrógenos/administración & dosificación , Femenino , Humanos , Masculino , Pruebas de Función Respiratoria , Cirugía de Reasignación de Sexo , Personas Transgénero , Adulto JovenRESUMEN
BACKGROUND: The CAnadian REgistry for Pulmonary Fibrosis (CARE-PF) is a multi-center, prospective registry designed to study the natural history of fibrotic interstitial lung disease (ILD) in adults. The aim of this cross-sectional sub-study was to describe the baseline characteristics, risk factors, and comorbidities of patients enrolled in CARE-PF to date. METHODS: Patients completed study questionnaires and clinical measurements at enrollment and each follow-up visit. Environmental exposures were assessed by patient self-report and comorbidities by the Charlson Comorbidity Index (CCI). Baseline characteristics, exposures, and comorbidities were described for the overall study population and for incident cases, and were compared across ILD subtypes. RESULTS: The full cohort included 1285 patients with ILD (961 incident cases (74.8%)). Diagnoses included connective tissue disease-associated ILD (33.3%), idiopathic pulmonary fibrosis (IPF) (24.7%), unclassifiable ILD (22.3%), chronic hypersensitivity pneumonitis (HP) (7.5%), sarcoidosis (3.2%), non-IPF idiopathic interstitial pneumonias (3.0%, including idiopathic nonspecific interstitial pneumonia (NSIP) in 0.9%), and other ILDs (6.0%). Patient-reported exposures were most frequent amongst chronic HP, but common across all ILD subtypes. The CCI was ≤2 in 81% of patients, with a narrow distribution and range of values. CONCLUSIONS: CTD-ILD, IPF, and unclassifiable ILD made up 80% of ILD diagnoses at ILD referral centers in Canada, while idiopathic NSIP was rare when adhering to recommended diagnostic criteria. CCI had a very narrow distribution across our cohort suggesting it may be a poor discriminator in assessing the impact of comorbidities on patients with ILD.
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Alveolitis Alérgica Extrínseca/epidemiología , Exposición a Riesgos Ambientales , Fibrosis Pulmonar Idiopática/epidemiología , Enfermedades Pulmonares Intersticiales/epidemiología , Sistema de Registros , Adulto , Anciano , Canadá/epidemiología , Comorbilidad , Enfermedades del Tejido Conjuntivo/complicaciones , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Encuestas y CuestionariosRESUMEN
This article reports a technique for near-surface ultrasonic array imaging. Information equivalent to an undelayed full matrix of inter-element responses is produced through cross-correlation of a later time diffuse full matrix. This reconstructed full matrix lacks the nonlinear effects of early time saturation present in a directly acquired response. Consequently the near-surface material information usually obscured by this effect is retrieved. Furthermore it is shown that a hybrid full matrix formed through a temporally weighted sum of coherent and reconstructed matrices allows for effective near-surface and bulk material imaging from a single direct-contact experimental realisation.
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We demonstrate the generation of Bessel beams using an acousto-optic array based on a liquid filled cavity surrounded by a cylindrical multi-element ultrasound transducer array. Conversion of a Gaussian laser mode into a Bessel beam with tunable order and position is shown. Also higher-order Bessel beams up to the fourth order are successfully generated with experimental results very closely matching simulations.
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This Letter reports a technique for the imaging of acoustic nonlinearity. By contrasting the energy of the diffuse field produced through the focusing of an ultrasonic array by delayed parallel element transmission with that produced by postprocessing of sequential transmission data, acoustic nonlinearity local to the focal point is measured. Spatially isolated wave distortion is inferred without requiring interrogation of the wave at the inspection point, thereby allowing nonlinear imaging through depth.
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Modelos Teóricos , Ultrasonido/métodos , Acústica , Procesamiento de Imagen Asistido por Computador , Dinámicas no Lineales , TermodinámicaRESUMEN
Ultrasonic array imaging algorithms have been widely used and developed in nondestructive evaluation in the last 10 years. In this paper, three imaging algorithms [total focusing method (TFM), phase-coherent imaging (PCI), and spatial compounding imaging (SCI)] are compared through both simulation and experimental measurements. In the simulation, array data sets were generated using a hybrid forward model containing a single defect among a multitude of randomly distributed point scatterers to represent backscatter from material microstructure. The number of point scatterers per unit area and their scattering amplitude were optimized to reduce computation cost. The SNR of the final images and their resolution were used to indicate the quality of the different imaging algorithms. The images of different types of defects (point reflectors and planar cracks) were used to investigate the robustness of the imaging algorithms. It is shown that PCI can yield higher image resolution and higher SNR for defects in material with weak backscatter than TFM, but that the images of cracks are distorted. Overall, TFM is the most robust algorithm across a range of different types of defects. It is also shown that the detection limit of all three imaging algorithms is almost equal for weakly scattering defects.
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Impurities play a critical role in magnetic fusion research. In large quantities, impurities can cool and dilute plasma creating problems for achieving ignition and burn; however in smaller amounts the impurities could provide valuable information about several plasma parameters through the use of spectroscopy. Many impurity ions radiate within the extreme ultraviolet (EUV) range. Here, we report on spectra from the silver flat field spectrometer, which was implemented at the Sustained Spheromak Physics experiment (SSPX) to monitor ion impurity emissions. The chamber within the SSPX was made of Cu, which makes M-shell Cu a prominent impurity signature. The Spect3D spectral analysis code was utilized to identify spectral features in the range of 115-315 Å and to more fully understand the plasma conditions. A second set of experiments was carried out on the compact laser-plasma x-ray∕EUV facility "Sparky" at UNR, with Cu flat targets used. The EUV spectra were recorded between 40-300 Å and compared with results from SSPX.
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Acoustic radiation force exerted by standing waves on particles is analyzed using a finite difference time domain Lagrangian method. This method allows the acoustic radiation force to be obtained directly from the solution of nonlinear fluid equations, without any assumptions on size or geometry of the particles, boundary conditions, or acoustic field amplitude. The model converges to analytical results in the limit of small particle radii and low field amplitudes, where assumptions within the analytical models apply. Good agreement with analytical and numerical models based on solutions of linear scattering problems is observed for compressible particles, whereas some disagreement is detected when the compressibility of the particles decreases.
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This recently developed diagnostic was designed to allow for time-gated spectroscopic study of the EUV radiation (4 nm < λ < 15 nm) present during harsh wire array z-pinch implosions. The spectrometer utilizes a 25 µm slit, an array of 3 spherical blazed gratings at grazing incidence, and a microchannel plate (MCP) detector placed in an off-Rowland position. Each grating is positioned such that its diffracted radiation is cast over two of the six total independently timed frames of the MCP. The off-Rowland configuration allows for a much greater spectral density on the imaging plate but only focuses at one wavelength per grating. The focal wavelengths are chosen for their diagnostic significance. Testing was conducted at the Zebra pulsed-power generator (1 MA, 100 ns risetime) at the University of Nevada, Reno on a series of wire array z-pinch loads. Within this harsh z-pinch environment, radiation yields routinely exceed 20 kJ in the EUV and soft x-ray. There are also strong mechanical shocks, high velocity debris, sudden vacuum changes during operation, energic ion beams, and hard x-ray radiation in excess of 50 keV. The spectra obtained from the precursor plasma of an Al double planar wire array contained lines of Al IX and AlX ions indicating a temperature near 60 eV during precursor formation. Detailed results will be presented showing the fielding specifications and the techniques used to extract important plasma parameters using this spectrometer.
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A method of manipulating microparticles in a liquid using ultrasound is proposed and demonstrated. An ultrasonic standing wave with nodal planes whose positions are controllable by varying the relative phase of two applied sinusoidal signals is generated using a pair of acoustically matched piezoelectric transducers. The resulting acoustic radiation force is used to trap micron scale particles at a series of arbitrary positions (determined by the relative phase) and then move them in a controlled manner. This method is demonstrated experimentally and 5 µm polystyrene particles are trapped and moved in one dimension through 140 µm.
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Poliestirenos , Ultrasonido , Modelos Teóricos , Movimiento (Física) , Tamaño de la Partícula , Transductores , Ultrasonido/instrumentaciónRESUMEN
A model for quantifying the performance of acoustic emission (AE) systems on plate-like structures is presented. Employing a linear transfer function approach the model is applicable to both isotropic and anisotropic materials. The model requires several inputs including source waveforms, phase velocity and attenuation. It is recognised that these variables may not be readily available, thus efficient measurement techniques are presented for obtaining phase velocity and attenuation in a form that can be exploited directly in the model. Inspired by previously documented methods, the application of these techniques is examined and some important implications for propagation characterisation in plates are discussed. Example measurements are made on isotropic and anisotropic plates and, where possible, comparisons with numerical solutions are made. By inputting experimentally obtained data into the model, quantitative system metrics are examined for different threshold values and sensor locations. By producing plots describing areas of hit success and source location error, the ability to measure the performance of different AE system configurations is demonstrated. This quantitative approach will help to place AE testing on a more solid foundation, underpinning its use in industrial AE applications.
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New extreme ultraviolet (EUV) spectroscopic diagnostics of relatively low-temperature plasmas based on the application of an EUV spectrometer and fast EUV diodes combined with glass capillary optics is described. An advanced high resolution dispersive element sliced multilayer grating was used in the compact EUV spectrometer. For monitoring of the time history of radiation, filtered fast EUV diodes were used in the same spectral region (>13 nm) as the EUV spectrometer. The radiation from the plasma was captured by using a single inexpensive glass capillary that was transported onto the spectrometer entrance slit and EUV diode. The use of glass capillary optics allowed placement of the spectrometer and diodes behind the thick radiation shield outside the direction of a possible hard x-ray radiation beam and debris from the plasma source. The results of the testing and application of this diagnostic for a compact laser plasma source are presented. Examples of modeling with parameters of plasmas are discussed.
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The study of impurities is a key component of magnetic fusion research as it is directly related to plasma properties and steady-state operation. Two of the most important low-Z impurities are carbon and oxygen. The appropriate method of diagnosing these ions in plasmas is extreme ultraviolet (EUV) spectroscopy. In this work the results of two different sets of experiments are considered, and the spectra in a spectral region from 40 to 300 A are analyzed. The first set of experiments was carried out at the Sustained Spheromak Physics Experiment at LLNL, where EUV spectra of oxygen ions were recorded. The second set of experiments was performed at the compact laser-plasma x-ray/EUV facility "Sparky" at UNR. In particular, Mylar and Teflon slabs were used as targets to produce carbon, oxygen, and fluorine ions of different ionization stages. Nonlocal thermodynamic equilibrium kinetic models of O, F, and C were applied to identify the most diagnostically important spectral features of low-Z ions between 40 to 300 A and to provide plasma parameters for both sets of experiments.
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BACKGROUND: Cystic fibrosis-related diabetes (CFRD) is an increasingly prevalent comorbidity factor for patients with cystic fibrosis (CF). CFRD has been associated with an accelerated decline in clinical parameters and an increased mortality rate. OBJECTIVES: To investigate the clinical impact of CFRD on pulmonary function and clinical status using a matched study design to further explore potential causality. METHODS: Charts from the adult CF clinic at St Paul's Hospital (Vancouver, British Columbia) were retrospectively reviewed. Forty CFRD patients with and without fasting hyperglycemia were matched to CF patients with nondiabetic glucose tolerance based on sex, age and forced expiratory volume in 1 s (FEV(1)). RESULTS: Sixteen of 40 CFRD patients (40%) died compared with nine of 40 patient controls (23%) (P=0.13). CFRD patients were more likely to experience declines in FEV(1) (P<0.01), especially women (P<0.01). Patients with CFRD were not more likely to be hospitalized (P=0.39). Body mass index did not differ between groups. CONCLUSIONS: Patients with CFRD had higher rates of FEV(1) deterioration than nondiabetic patients with CF, and showed a trend toward increased mortality. The present study suggests that CFRD has a significant clinical impact and should be carefully considered when evaluating the status of CF patients.
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Fibrosis Quística/epidemiología , Diabetes Mellitus/etiología , Adulto , Glucemia/metabolismo , Colombia Británica/epidemiología , Fibrosis Quística/complicaciones , Fibrosis Quística/fisiopatología , Diabetes Mellitus/sangre , Diabetes Mellitus/epidemiología , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Volumen Espiratorio Forzado/fisiología , Humanos , Masculino , Prevalencia , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia , Adulto JovenRESUMEN
This paper presents the fabrication and characterisation of a flexible ultrasonic transducer using commercially available PZT-5A piezoelectric fibers which are lapped to form rectangular piezoelectric elements. The key feature in the device construction is the inclusion of gaps between the piezoelectric fibers to ensure good flexibility in the plane normal to the fiber direction. The spatial response of the transducer ultrasonic output was assessed using acoustographic imaging. The flexibility of the transducer and its applicability in pulse-echo mode on curved sections was demonstrated by testing on a 38 mm diameter steel rod. The transducer response was found to be broad band and highly non uniform but good pulse-echo performance was achieved at 5 MHz.
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Diseño Asistido por Computadora , Interpretación de Imagen Asistida por Computador/métodos , Modelos Teóricos , Transductores , Ultrasonografía/instrumentación , Simulación por Computador , Diseño de Equipo , Análisis de Falla de Equipo , LuzRESUMEN
BACKGROUND: This study examined characteristics of adult and adolescent patients with cystic fibrosis (CF) to determine factors associated with an increased risk of pulmonary exacerbations. METHODS: 249 patients with CF infected with multidrug resistant bacteria were recruited and prospectively followed for up to 4.5 years until they experienced a pulmonary exacerbation severe enough to require intravenous antibiotics. Multivariable regression analyses were used to compare the characteristics of patients who experienced an exacerbation with those who did not. RESULTS: 124 of the 249 patients (50%) developed a pulmonary exacerbation during the first year and 154 (62%) experienced an exacerbation during the 4.5 year study period. Factors predictive of exacerbations in a multivariable survival model were younger age (OR 0.98, 95% CI 0.96 to 0.99), female sex (OR 1.45, 95% CI 1.07 to 1.95), lower forced expiratory volume in 1 second (FEV(1)) (OR 0.98, 95% CI 0.97 to 0.99), and a previous history of multiple pulmonary exacerbations (OR 3.16, 95% CI 1.93 to 5.17). Chronic use of inhaled corticosteroids was associated with an increased risk of exacerbation (OR 1.92, 95% CI 1.00 to 3.71) during the first study year. CONCLUSIONS: Patients who experience pulmonary exacerbations are more likely to be younger, female, using inhaled steroids, have a lower FEV(1), and a history of multiple previous exacerbations. It is hoped that knowledge of these risk factors will allow better identification and closer monitoring of patients who are at high risk of exacerbations.
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Fibrosis Quística/complicaciones , Enfermedades Pulmonares/microbiología , Adolescente , Adulto , Antibacterianos/administración & dosificación , Fibrosis Quística/tratamiento farmacológico , Farmacorresistencia Bacteriana Múltiple , Femenino , Estudios de Seguimiento , Volumen Espiratorio Forzado , Humanos , Enfermedades Pulmonares/tratamiento farmacológico , Masculino , Análisis Multivariante , Valor Predictivo de las Pruebas , Estudios Prospectivos , Factores de Riesgo , Esteroides/efectos adversosRESUMEN
A moderate-density linkage map for Lolium perenne L. has been constructed based on 376 simple sequence repeat (SSR) markers. Approximately one third (124) of the SSR markers were developed from GeneThresher libraries that preferentially select genomic DNA clones from the gene-rich unmethylated portion of the genome. The remaining SSR marker loci were generated from either SSR-enriched genomic libraries (247) or ESTs (5). Forty-five percent of the GeneThresher SSRs were associated with an expressed gene. Unlike EST-derived SSR markers, GeneThresher SSRs were often associated with genes expressed at a low level, such as transcription factors. The map constructed here fulfills 2 definitions of a "framework map". Firstly, it is composed of codominant markers to ensure map transferability either within or among species. Secondly, it was constructed to achieve a level of statistical confidence in the support-for-order of marker loci. The map consists of 81 framework SSR markers spread over 7 linkage groups, the same as the haploid chromosome number. Most of the remaining 295 SSR markers have been placed into their most likely interval on the framework map. Nine RFLP markers and 1 SSR marker from another map constructed using the same pedigree were also incorporated to extend genome coverage at the terminal ends of 5 linkage groups. The final map provides a robust framework with which to conduct investigations into the genetic architecture of trait variation in this commercially important grass species.
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Mapeo Cromosómico , Ligamiento Genético , Marcadores Genéticos , Lolium/genética , Repeticiones de Minisatélite/genética , Cruzamientos Genéticos , Genoma de Planta , Linaje , Polimorfismo de Longitud del Fragmento de Restricción , Análisis de SecuenciaRESUMEN
In an attempt to induce a graft-versus-myeloma effect, we administered donor lymphocyte infusions (DLI) after high-dose therapy with autologous stem cell transplant rescue to seven patients with refractory or relapsed multiple myeloma. High-dose therapy consisted of melphalan, idarubicin and etoposide (days -9 to -6) followed by autologous stem cell infusion on day 0. DLI (five of seven donors with two or three HLA antigens mismatched) were administered on days +1, +5 and +10 along with IL-2 (from day +1 through +12). Six of the seven patients developed acute graft-versus-host disease (GVHD), which resolved spontaneously, coincidentally with autologous hematopoietic reconstitution. One patient failed to engraft and received a second autologous graft. One patient died from complications of a pulmonary hemorrhage after experiencing GVHD. With a minimum follow-up of 38 months, five patients remain without disease progression in complete remission or with minimal residual disease. In this setting, DLI/IL-2 is biologically active resulting in GVHD. A graft-versus-myeloma effect is suggested by the improved outcome of our small cohort of high-risk patients. The use of partially mismatched related donors makes this approach potentially available to nearly all patients.
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Traslado Adoptivo , Trasplante de Células Madre Hematopoyéticas , Interleucina-2/administración & dosificación , Mieloma Múltiple/terapia , Adulto , Terapia Combinada , Femenino , Estudios de Seguimiento , Enfermedad Injerto contra Huésped/mortalidad , Humanos , Masculino , Persona de Mediana Edad , Mieloma Múltiple/mortalidad , Factores de Riesgo , Donantes de TejidosRESUMEN
Linkage analysis is commonly used to find marker-trait associations within the full-sib families of forest tree and other species. Study of marker-trait associations at the population level is termed linkage-disequilibrium (LD) mapping. A female-tester design comprising 200 full-sib families generated by crossing 40 pollen parents with five female parents was used to assess the relationship between the marker-allele frequency classes obtained from parental genotypes at SSR marker loci and the full-sib family performance (average predicted breeding value of two parents) in radiata pine ( Pinus radiata D. Don). For alleles (at a marker locus) that showed significant association, the copy number of that allele in the parents was significantly correlated, either positively or negatively, with the full-sib family performance for various economic traits. Regression of parental breeding value on its genotype at marker loci revealed that most of the markers that showed significant association with full-sib family performance were not significantly associated with the parental breeding values. This suggests that over-representation of the female parents in our sample of 200 full-sib families could have biased the process of detecting marker-trait associations. The evidence for the existence of marker-trait LD in the population studied is rather weak and would require further testing. The exact test for genotypic disequilibrium between pairs of linked or unlinked marker loci revealed non-significant LD. Observed genotypic frequencies at several marker loci were significantly different from the expected Hardy-Weinberg equilibrium. The possibilities of utilising marker-trait associations for early selection, among-family selection and selecting parents for the next generation of breeding are also discussed.