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1.
Opt Express ; 32(11): 20011-20023, 2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38859120

RESUMEN

Zernike polynomial orthogonality, an established mathematical principle, is leveraged with the Gauss-Legendre quadrature rule in a rapid novel approach to fitting data over a circular domain. This approach provides significantly faster fitting speeds, in the order of thousands of times, while maintaining comparable error rates achieved with conventional least-square fitting techniques. We demonstrate the technique for fitting mid-spatial-frequencies (MSF) prevalent in small-tool-manufacturing typical of aspheric and freeform optics that are poised to soon permeate a wide range of optical technologies.

2.
Aust Vet J ; 100(3): 114-120, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34859419

RESUMEN

AliveCor is a smartphone electrocardiography device (iECG) providing automated heart rate (HR) and rhythm determination. Atrial fibrillation (AF) in horses often is paroxysmal and rapid ECG acquisition is needed for diagnostic confirmation. iECGs were collected post-race from 15 horses with AF and 64 horses in sinus rhythm (SR). Results of manual assessment were compared to 3 commercial algorithms for HR and rhythm. Agreement between manually derived HR (HRM ) and HR derived by the AliveECG Vet (HRVET ) and Kardia version-1 (KV1 HR) and Kardia advanced (KADV HR) algorithms was quantified by the Bland-Altman limits of agreement test. Agreement between manual rhythm classification and KV1 and KADV algorithms for AF and SR was calculated by the Kappa statistical coefficient. The agreement (bias, 95% limits), between HRM and HRVET was 7.1 BPM (-29 to 43) in AF and -4.2 BPM (-38 to 30) in SR, between HRM and KV1 HR, was -0.3 BPM (-31 to 30) in AF and 0.2 BPM (-3 to 4) in SR, and between HRM and KADV HR was 7.0 BPM (-29 to 43) in AF and 0.2 BPM (-3.9 to 4.2) in SR. Agreement between manual rhythm classification and KV1 was 0.36 (0.13-0.59), and KADV was 0.84 (0.68-0.99). Sensitivity and specificity for identification of AF and SR of the KV1 algorithm were 60, 100% and 83, 100%, respectively, and of KADV was 87, 100% and 93, 100% respectively. The Kardia algorithms improved precision for HR determination in SR but not AF. The advanced algorithm accurately distinguished between AF and SR. The iECG is suitable for recording episodes of AF following exercise.


Asunto(s)
Fibrilación Atrial , Enfermedades de los Caballos , Algoritmos , Animales , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/veterinaria , Electrocardiografía/métodos , Electrocardiografía/veterinaria , Frecuencia Cardíaca/fisiología , Enfermedades de los Caballos/diagnóstico , Caballos , Sensibilidad y Especificidad
3.
Phytopathology ; 112(7): 1431-1443, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34384240

RESUMEN

Policymakers and donors often need to identify the locations where technologies are most likely to have important effects, to increase the benefits from agricultural development or extension efforts. Higher-quality information may help to target the high-benefit locations, but often actions are needed with limited information. The value of information (VOI) in this context is formalized by evaluating the results of decision making guided by a set of specific information compared with the results of acting without considering that information. We present a framework for management performance mapping that includes evaluating the VOI for decision making about geographic priorities in regional intervention strategies, in case studies of Andean and Kenyan potato seed systems. We illustrate the use of recursive partitioning, XGBoost, and Bayesian network models to characterize the relationships among seed health and yield responses and environmental and management predictors used in studies of seed degeneration. These analyses address the expected performance of an intervention based on geographic predictor variables. In the Andean example, positive selection of seed from asymptomatic plants was more effective at high altitudes in Ecuador. In the Kenyan example, there was the potential to target locations with higher technology adoption rates and with higher potato cropland connectivity, i.e., a likely more important role in regional epidemics. Targeting training to high management performance areas would often provide more benefits than would random selection of target areas. We illustrate how assessing the VOI can contribute to targeted development programs and support a culture of continuous improvement for interventions.[Formula: see text] Copyright © 2022 The Author(s). This is an open access article distributed under the CC BY 4.0 International license.


Asunto(s)
Semillas , Solanum tuberosum , Teorema de Bayes , Ecuador , Kenia , Enfermedades de las Plantas/prevención & control
4.
BMC Health Serv Res ; 21(1): 712, 2021 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-34284759

RESUMEN

BACKGROUND: Advance care planning (ACP) conversations support people to think about, discuss and document their beliefs, values and preferences regarding future care. This process means that should the person loose capacity in the future, care can be provided, consistent with their personal values and beliefs. The ACP process is particularly relevant for older people living with frailty (frail elders) as they are vulnerable to sudden deterioration. However, ACP is rarely undertaken by frail elders. The aim of this study was to develop an intervention to increase multidisciplinary health and social care professionals' (H&SCPs) engagement of cognitively able, domestic-dwelling frail elders with ACP. METHODS: Intervention development was guided by the Medical Research Council framework for complex interventions and the Behaviour Change Wheel. Multiple methods were used to understand ACP barriers and enablers: a systematic integrative review, a survey (n = 73 H&SCPs), and semi-structured interviews (n = 10 frail elders, n = 8 family members). A conceptual model, developed from the integrative review, underpinned data collection for the survey and interviews. Synthesis of this data, including patient and public involvement, was then used to identify H&SCPs behaviours that needed to change for ACP to be implemented and decide content and implementation for the intervention. RESULTS: Following the Behaviour Change Wheel system, and based on the findings of the review, survey and interviews, the prototype intervention, Conversations on Living and Dying (CLaD), was developed. The CLaD prototype consisted of one 3.5-hour educational skills session for H&SCPs supported by a toolkit. Content focussed on the relevance of ACP for frail elders, experience of ACP by frail elders, and strategies H&SCPs could adopt to encourage frail elders' engagement with ACP. Strategies include recognising the importance of relationships and living well now, preparing frail elders for ACP conversations and starting ACP early. Participants who took part in initial prototype refinement reported that the intervention helped them think differently about ACP and encouraged them to engage with frail elders. CONCLUSIONS: The use of behavioural theory enabled the development of CLaD, an evidence-based, theory-driven, person-centred intervention to support ACP engagement with frail elders. While feasibility testing is required, initial prototype refinement demonstrated that H&SCPs found the intervention to be acceptable, engaging, and clinically valuable in their practice with frail elders and their families.


Asunto(s)
Planificación Anticipada de Atención , Anciano Frágil , Anciano , Comunicación , Familia , Personal de Salud , Humanos
5.
Opt Express ; 28(14): 20277-20295, 2020 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-32680091

RESUMEN

Mid-spatial frequency (MSF) structures on optical surfaces degrade system performance and a perturbation model is typically used to simplify the assessment of their effects. In this simple model, MSF phase structures are dragged along the nominal rays of a system to yield estimates of wavefronts in the exit pupil that may be used for further analysis. However, the validity of the perturbation model remains an open area of study. We extend our previous assessment of the validity of this model [K. Liang, Opt. Express 27, 3390-3408 (2019)] that was focused on the analysis of single-frequency MSF structures in two dimensions to now include error estimates for broad-spectra MSF structures in three dimensions.

6.
Opt Express ; 27(22): 32263-32276, 2019 Oct 28.
Artículo en Inglés | MEDLINE | ID: mdl-31684443

RESUMEN

In many applications it is natural to seek to extract a characteristic scale for a function's variations by reference to a frequency spectrum. Although the moments of a spectrum appear to promise simple options to make such a connection, standard Fourier methods fail to yield finite moments when the function's domain is itself finite. We investigate a family of Fourier-like bases with rapidly decaying spectra that yield well-defined moments for such cases. These bases are derived by considering classes of functions for which a normalised mean square derivative is stationary. They are shown to provide precisely the type of spectrum needed to complete a recent investigation of mid-spatial frequency structure on optical surfaces [K. Liang, Opt. Express 27, 3390-3408 (2019)].

7.
Opt Express ; 27(3): 3390-3408, 2019 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-30732360

RESUMEN

Assessment of the performance degradation caused by the mid-spatial frequency (MSF) structure on optical surfaces often relies on a perturbation method that dovetails with the familiar sequence of models based on geometrical and physical optics. In the case of imaging systems, the perturbative step yields estimates of wavefronts in the exit pupil which are, in turn, used to extract performance measures such as MTF, PSF, and Strehl ratio. To date, the validity of that perturbation appears to be poorly understood. We present methods to estimate the errors of this approach and thereby arrive at a rule of thumb for its accuracy: the error is approximately equal to the RMS of the MSF structure at its source multiplied by the square of the ratio between a particular Fresnel zone size and a characteristic length of the MSF structure.

8.
Phytopathology ; 107(10): 1209-1218, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28742457

RESUMEN

Seed systems have an important role in the distribution of high-quality seed and improved varieties. The structure of seed networks also helps to determine the epidemiological risk for seedborne disease. We present a new approach for evaluating the epidemiological role of nodes in seed networks, and apply it to a regional potato farmer consortium (Consorcio de Productores de Papa [CONPAPA]) in Ecuador. We surveyed farmers to estimate the structure of networks of farmer seed tuber and ware potato transactions, and farmer information sources about pest and disease management. Then, we simulated pathogen spread through seed transaction networks to identify priority nodes for disease detection. The likelihood of pathogen establishment was weighted based on the quality or quantity of information sources about disease management. CONPAPA staff and facilities, a market, and certain farms are priorities for disease management interventions such as training, monitoring, and variety dissemination. Advice from agrochemical store staff was common but assessed as significantly less reliable. Farmer access to information (reported number and quality of sources) was similar for both genders. However, women had a smaller amount of the market share for seed tubers and ware potato. Understanding seed system networks provides input for scenario analyses to evaluate potential system improvements. [Formula: see text] Copyright © 2017 The Author(s). This is an open access article distributed under the CC BY 4.0 International license .


Asunto(s)
Epidemias , Especies Introducidas , Enfermedades de las Plantas/microbiología , Semillas/microbiología , Solanum tuberosum/microbiología , Simulación por Computador , Productos Agrícolas , Ecuador , Femenino , Humanos , Masculino , Modelos Teóricos , Enfermedades de las Plantas/estadística & datos numéricos , Tubérculos de la Planta/microbiología
9.
Phytopathology ; 107(10): 1268-1278, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28742460

RESUMEN

Resistance genes are a major tool for managing crop diseases. The networks of crop breeders who exchange resistance genes and deploy them in varieties help to determine the global landscape of resistance and epidemics, an important system for maintaining food security. These networks function as a complex adaptive system, with associated strengths and vulnerabilities, and implications for policies to support resistance gene deployment strategies. Extensions of epidemic network analysis can be used to evaluate the multilayer agricultural networks that support and influence crop breeding networks. Here, we evaluate the general structure of crop breeding networks for cassava, potato, rice, and wheat. All four are clustered due to phytosanitary and intellectual property regulations, and linked through CGIAR hubs. Cassava networks primarily include public breeding groups, whereas others are more mixed. These systems must adapt to global change in climate and land use, the emergence of new diseases, and disruptive breeding technologies. Research priorities to support policy include how best to maintain both diversity and redundancy in the roles played by individual crop breeding groups (public versus private and global versus local), and how best to manage connectivity to optimize resistance gene deployment while avoiding risks to the useful life of resistance genes. [Formula: see text] Copyright © 2017 The Author(s). This is an open access article distributed under the CC BY 4.0 International license .


Asunto(s)
Resistencia a la Enfermedad/genética , Manihot/genética , Oryza/genética , Enfermedades de las Plantas/inmunología , Solanum tuberosum/genética , Triticum/genética , Agricultura , Cruzamiento , Clima , Productos Agrícolas , Abastecimiento de Alimentos
11.
Phytopathology ; 107(10): 1123-1135, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28545348

RESUMEN

Pathogen buildup in vegetative planting material, termed seed degeneration, is a major problem in many low-income countries. When smallholder farmers use seed produced on-farm or acquired outside certified programs, it is often infected. We introduce a risk assessment framework for seed degeneration, evaluating the relative performance of individual and combined components of an integrated seed health strategy. The frequency distribution of management performance outcomes was evaluated for models incorporating biological and environmental heterogeneity, with the following results. (1) On-farm seed selection can perform as well as certified seed, if the rate of success in selecting healthy plants for seed production is high; (2) when choosing among within-season management strategies, external inoculum can determine the relative usefulness of 'incidence-altering management' (affecting the proportion of diseased plants/seeds) and 'rate-altering management' (affecting the rate of disease transmission in the field); (3) under severe disease scenarios, where it is difficult to implement management components at high levels of effectiveness, combining management components can be synergistic and keep seed degeneration below a threshold; (4) combining management components can also close the yield gap between average and worst-case scenarios. We also illustrate the potential for expert elicitation to provide parameter estimates when empirical data are unavailable. [Formula: see text] Copyright © 2017 The Author(s). This is an open access article distributed under the CC BY-NC-ND 4.0 International license .


Asunto(s)
Productos Agrícolas/microbiología , Enfermedades de las Plantas/prevención & control , Semillas/microbiología , Agricultura , Simulación por Computador , Productos Agrícolas/fisiología , Granjas , Manihot/microbiología , Manihot/fisiología , Modelos Teóricos , Musa/microbiología , Musa/fisiología , Enfermedades de las Plantas/microbiología , Medición de Riesgo , Semillas/fisiología , Solanum tuberosum/microbiología , Solanum tuberosum/fisiología , Tiempo (Meteorología)
12.
Opt Lett ; 41(16): 3735-8, 2016 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-27519076

RESUMEN

To give useful insight into the impact of mid-spatial frequency structure on optical performance, the Strehl ratio is shown to correspond to the Fourier transform of a simple statistical characterization of the aberration in the exit pupil. This statistical description is found simply by autocorrelating a histogram of the aberration values. In practice, the histogram itself can often be approximated by a convolution of underlying histograms associated with fabrication steps and, together with the final autocorrelation, it follows from the central limit theorem that the Strehl ratio as a function of the scale of the phase error is generally approximated well by a Gaussian.

13.
Opt Express ; 24(15): 16496-8, 2016 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-27464103

RESUMEN

Potentially misleading results follow from an error in a recent paper, namely [Opt. Express24, 5448-5462 (2016)], that contains a comparative analysis of schemes for specifying shape. Some corrections are presented for clarification. Additional comments are offered in relation to practical goals in this area of research.

14.
J Vet Intern Med ; 30(1): 260-8, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26683003

RESUMEN

BACKGROUND: Acute gastrointestinal disease occurs commonly in horses. Novel biomarkers might improve the understanding of SIRS and aid diagnosis and determination of prognosis. HYPOTHESES: Increased plasma concentrations of the biomarkers HMGB-1 and nucleosomes are associated with severity of gastrointestinal lesions in horses; concentrations of these biomarkers will be greater in horses with lesions more likely to cause SIRS; and will provide additional information compared with standard biomarkers fibrinogen and SAA. ANIMALS: Thirty horses with gastrointestinal disease, 22 healthy horses. METHODS: Prospective study. Plasma samples taken on admission were used for measurement of HMGB-1, nucleosomes, fibrinogen, and SAA. Values were compared between healthy horses and those with gastrointestinal disease, and between horses with gastrointestinal disease grouped by lesion type (inflammatory, strangulating, and nonstrangulating). Correlations between biomarkers were assessed. RESULTS: Plasma concentrations of all biomarkers were significantly higher in horses with gastrointestinal disease compared to healthy horses (P ≤ .001). HMGB-1 and nucleosomes were significantly higher in inflammatory and strangulating groups compared to healthy horses (3.5-fold and 5.4-fold increases, respectively, for HMGB-1 (P < .05) and 4.8-fold and 5.6-fold increases for nucleosomes (P < .05)), but concentrations in the group with nonstrangulating disease did not differ from healthy horses. There was significant correlation between HMGB-1 and nucleosomes (Spearman's r = 0.623; P < .001), and fibrinogen and SAA (Spearman's r = 0.801; P < .001) but not between other biomarkers. CONCLUSIONS AND CLINICAL IMPORTANCE: High mobility group box-1 and nucleosomes might have use as biomarkers for horses with gastrointestinal disease. Further studies are required to determine kinetics and prognostic value of serial measurements of these biomarkers in horses.


Asunto(s)
Cólico/veterinaria , Proteína HMGB1/sangre , Enfermedades de los Caballos/sangre , Nucleosomas/metabolismo , Animales , Biomarcadores , Cólico/sangre , Cólico/metabolismo , Femenino , Regulación de la Expresión Génica/fisiología , Proteína HMGB1/genética , Proteína HMGB1/metabolismo , Enfermedades de los Caballos/metabolismo , Caballos , Masculino , Síndrome de Respuesta Inflamatoria Sistémica/sangre , Síndrome de Respuesta Inflamatoria Sistémica/veterinaria
15.
Br Dent J ; 218(7): 387-91; discussion 391, 2015 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-25858735

RESUMEN

AIMS: To understand current practice and the beliefs of dentists and hygienists towards factors which may influence the management of patients with periodontal diseases in primary dental care in Scotland. To inform the scope of a guidance publication and the future development of diagnostic analyses tools. METHODS: A qualitative approach of semi-structured telephone interviews with a randomly selected sample of dentists and hygienists was used. Interviews continued until saturation was reached and were audio-recorded and transcribed verbatim. The data were analysed using the method of framework analysis. To increase the participation of hygienists the topic guide was adapted into a self-reporting questionnaire and posted to all hygienists in Scotland. RESULTS: Eighteen dentists and three hygienists were interviewed. Key themes identified were extent of control over working environment, capabilities to treat appropriately and changing patients' oral hygiene behaviour. Factors which facilitated the management of patients with periodontal diseases were 'access to a hygienist' and 'beliefs about capabilities', while 'routine and habit', 'motivation of patients' and 'time and money' were perceived as barriers. Some evidence of variation in treatment provision and of varying levels of confidence among practitioners about treating more advanced periodontal conditions was identified. Two hundred and thirty-seven hygienists returned the postal questionnaire. Agreement was found with the views of the interviewed hygienists on beliefs about capabilities and routine record-keeping. CONCLUSION: To improve the periodontal health of patients requires consideration of both extrinsic and intrinsic factors present in primary dental care. Practitioners would find having guidance on managing patients with basic periodontal examinations of three and four, referral criteria to secondary care, record-keeping and techniques to change patients' oral hygiene behaviour particularly useful. Applying the evaluative framework pre-publication indicated where knowledge translation interventions may be required in the future.


Asunto(s)
Atención Odontológica , Periodoncia/métodos , Atención Odontológica/métodos , Femenino , Humanos , Entrevistas como Asunto , Masculino , Higiene Bucal/métodos , Enfermedades Periodontales/diagnóstico , Enfermedades Periodontales/terapia , Investigación Cualitativa , Escocia , Encuestas y Cuestionarios
16.
Br Dent J ; 215(7): E11, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24113989

RESUMEN

BACKGROUND: The behaviour of young children receiving mildly invasive dental preventive procedures in a community setting warrants more extensive research due to limitations in the literature.Objectives To document the behavioural profile of preschool children undergoing a preventive oral health intervention (fluoride varnish application) and to investigate this behaviour across children with different previous experience of the procedure, ages and initial anxiety states. METHOD: Nurse-child interactions were video recorded and child behaviours coded and analysed using a specially developed coding scheme (SABICS). Behaviour frequency was measured and presented diagrammatically, followed by independent sample non-parametric tests to distinguish behavioural group differences. RESULTS: Three hundred and three interactions were coded out of 456 recorded application sessions. 'Nonverbal agreement' behaviour was observed most frequently compared to disruptive behaviours. Younger preschool children tended to exhibit 'interact with instrument' behaviour more frequently than older children regardless of whether they had had previous application experience. Children who showed signs of initial anxiety were likely to display more disruptive behaviours during the later stage of the procedure compared with non-anxious children. CONCLUSIONS: Dental staff working with preschool children are recommended to use encouragement-centred strategies to promote nonverbal cooperative behaviours in children. In addition, procedure instruments could be considered as a tool to gain child cooperation. Evidence of an autocorrelation effect of child behaviour was found, indicating that the early presentation of child behaviour predicted the behaviour of the child at later stages.


Asunto(s)
Cariostáticos/uso terapéutico , Atención Dental para Niños/psicología , Fluoruros Tópicos/uso terapéutico , Ansiedad/etiología , Conducta Infantil/psicología , Preescolar , Caries Dental/prevención & control , Humanos , Relaciones Enfermero-Paciente , Grabación en Video
17.
Opt Express ; 21(16): 19061-81, 2013 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-23938821

RESUMEN

Orthogonality is exploited for fitting analytically-specified freeform shapes in terms of orthogonal polynomials. The end result is expressed in terms of FFTs coupled to a simple explicit form of Gaussian quadrature. Its efficiency opens the possibilities for proceeding to arbitrary numbers of polynomial terms. This is shown to create promising options for quantifying and filtering the mid-spatial frequency structure within circular domains from measurements of as-built parts.

18.
Res Vet Sci ; 95(2): 644-7, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23642486

RESUMEN

It has been observed that microbubbles may pass through the pulmonary circulation of dogs and humans during exercise. In humans, this phenomenon has been associated with lower pulmonary artery pressures, enhanced right ventricular function and greater exercise capacity. In the exercising Thoroughbred horse, extraordinarily high cardiac outputs exert significant pulmonary vascular stresses. The aim of this study was to determine, using contrast echocardiography, whether Thoroughbred horses performing strenuous exercise developed pulmonary transit of agitated contrast microbubbles (PTAC). At rest, agitated contrast was observed in the right ventricle, but not in the left ventricle. However, post-exercise microbubbles were observed in the left ventricle, confirming the occurrence of PTAC with exercise but not at rest. Further investigation is warranted to investigate whether this phenomenon may be associated with superior physiology and performance measures as has been implicated in other species.


Asunto(s)
Medios de Contraste/farmacología , Caballos/fisiología , Pulmón/irrigación sanguínea , Microburbujas/veterinaria , Condicionamiento Físico Animal/fisiología , Circulación Pulmonar/fisiología , Animales , Masculino
19.
Br Dent J ; 213(12): 603-9, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23257809

RESUMEN

BACKGROUND: Extended duties dental nurses (EDDNs) have been trained to deliver fluoride varnish applications to preschool children as part of the Childsmile initiative in Scotland. OBJECTIVES: To determine a detailed behavioural profile of the EDDNs during the administration of the fluoride varnish to confirm professional manner and identify differences in nurse behaviours between successful and unsuccessful application sessions. METHODS: Nurse-child interactions were video recorded and nurse behaviours coded and analysed using a specially developed coding scheme (SABICS). Behaviour frequency and duration were measured and correlations were calculated. Differences in behaviour were examined between successful and unsuccessful application sessions. RESULTS: Three hundred and three interactions were coded out of 456 recorded application sessions. No incident occurred where nurses threatened or placed undue stress on a child. In unsuccessful, compared with successful, application sessions, nurses demonstrated higher frequency and duration of the following behaviours: 'permission seeking', 'offer of task alternative', 'information seeking' and 'reassurance', controlling for length of procedure. Whereas with successful applications, 'praise', 'instruction' and 'information-giving' were used more frequently and for a longer duration, compared with unsuccessful applications. CONCLUSIONS: The EDDNs demonstrated a professional manner working with preschool children. They behaved differently between successful and unsuccessful application sessions. Sequential analysis is needed to examine causal effects of behaviours and its effects on delivery outcomes.


Asunto(s)
Cariostáticos/administración & dosificación , Asistentes Dentales , Fluoruros Tópicos/administración & dosificación , Competencia Profesional , Conducta Verbal , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Relaciones Enfermero-Paciente , Escuelas de Párvulos , Escocia
20.
Brain ; 135(Pt 8): 2329-36, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22719002

RESUMEN

Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the disease. We prospectively collected data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analysed demographic information based on UK population and birth figures. From structured referral data we examined a range of clinical characteristics including epilepsy phenotype, seizure precipitants, electroencephalography data, imaging studies, mutation class and response to medication. Predictors of developmental outcome were determined by logistic regression. We identified 241 cases with SCN1A mutation-positive Dravet syndrome, 207 of which were UK-based. The incidence of mutation-positive Dravet syndrome is at least 1:40 900 UK births. Clinical features predicting a worse developmental outcome included status epilepticus (odds ratio = 3.1; confidence interval = 1.5-6.3; P = 0.003), interictal electroencephalography abnormalities in the first year of life (odds ratio = 5.7; confidence interval = 1.9-16.8; P = 0.002) and motor disorder (odds ratio = 3.3; confidence interval = 1.7-6.4; P < 0.001). No significant effect was seen for seizure precipitants, magnetic resonance imaging abnormalities or mutation class (truncating versus missense). Abnormal magnetic resonance imaging was documented in 11% of cases, principally with findings of non-specific brain atrophy or hippocampal changes. Sodium valproate, benzodiazepines and topiramate were reported as being the most helpful medications at the time of referral. Aggravation of seizures was reported for carbamazepine and lamotrigine. The identification of factors influencing prognosis both aids counselling and encourages early, syndrome-specific therapy. Prevention of status epilepticus with regular medication and emergency protocols is important and may influence developmental outcome.


Asunto(s)
Epilepsias Mioclónicas/diagnóstico , Epilepsias Mioclónicas/genética , Mutación/genética , Proteínas del Tejido Nervioso/genética , Canales de Sodio/genética , Adolescente , Adulto , Niño , Preescolar , Estudios de Cohortes , Estudios Transversales , Epilepsias Mioclónicas/epidemiología , Femenino , Predicción , Humanos , Lactante , Masculino , Canal de Sodio Activado por Voltaje NAV1.1 , Pronóstico , Estudios Retrospectivos , Síndrome , Adulto Joven
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