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2.
Parkinsonism Relat Disord ; 117: 105864, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37827923

RESUMEN

We report ATP1A3-associated rapid-onset dystonia-parkinsonism with an atypical presentation including myoclonus and exaggerated startle in four patients. Their prominence over parkinsonism prompted consideration of a syndromic diagnosis of myoclonus dystonia. ATP1α3 dysfunction in GABAergic neurons could explain these examination findings. The spectrum of ATP1A3-associated movement disorders includes myoclonus-dystonia.


Asunto(s)
Distonía , Trastornos Distónicos , Mioclonía , Trastornos Parkinsonianos , Humanos , Distonía/complicaciones , Mioclonía/complicaciones , Mioclonía/diagnóstico , Mutación , Trastornos Distónicos/complicaciones , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/genética , Trastornos Parkinsonianos/complicaciones , Trastornos Parkinsonianos/genética , ATPasa Intercambiadora de Sodio-Potasio
3.
Sensors (Basel) ; 22(3)2022 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-35161706

RESUMEN

Floods are a major cause of loss of lives, destruction of infrastructure, and massive damage to a country's economy. Floods, being natural disasters, cannot be prevented completely; therefore, precautionary measures must be taken by the government, concerned organizations such as the United Nations Office for Disaster Risk Reduction and Office for the coordination of Human Affairs, and the community to control its disastrous effects. To minimize hazards and to provide an emergency response at the time of natural calamity, various measures must be taken by the disaster management authorities before the flood incident. This involves the use of the latest cutting-edge technologies which predict the occurrence of disaster as early as possible such that proper response strategies can be adopted before the disaster. Floods are uncertain depending on several climatic and environmental factors, and therefore are difficult to predict. Hence, improvement in the adoption of the latest technology to move towards automated disaster prediction and forecasting is a must. This study reviews the adoption of remote sensing methods for predicting floods and thus focuses on the pre-disaster phase of the disaster management process for the past 20 years. A classification framework is presented which classifies the remote sensing technologies being used for flood prediction into three types, which are: multispectral, radar, and light detection and ranging (LIDAR). Further categorization is performed based on the method used for data analysis. The technologies are examined based on their relevance to flood prediction, flood risk assessment, and hazard analysis. Some gaps and limitations present in each of the reviewed technologies have been identified. A flood prediction and extent mapping model are then proposed to overcome the current gaps. The compiled results demonstrate the state of each technology's practice and usage in flood prediction.


Asunto(s)
Desastres , Inundaciones , Humanos , Radar , Tecnología de Sensores Remotos , Medición de Riesgo
4.
J Mycol Med ; 31(4): 101199, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34418685

RESUMEN

INTRODUCTION: Itraconazole is the first-choice option to treat human and animal sporotrichosis. However, the emergence of itraconazole-resistant strains has encouraged research on new active antifungals. Among them, the essential oil of rosemary (Rosmarinus officinalis Linn., Lamiaceae) has shown antifungal activity in vitro. OBJECTIVE: Assessing, for the first time, the effectiveness of rosemary essential oil in vivo in experimental cutaneous sporotrichosis, as well as its chemical composition and action mode. METHODS: Itraconazole-resistant Sporothrix brasiliensis was inoculated in the left foot pad of 30 Wistar rats, which were randomized (n=10) for treatment with saline solution (control, CONT), itraconazole (ITRA, 10 mg/kg) and rosemary oil (ROSM, 250 mg/kg) for 30 days at an oral dose of 1 mL, daily. Clinical evolution, histopathology and fungal burden were investigated. GC-MS was used for chemical analysis; sorbitol protection and ergosterol effect were used to evaluate the action mechanism of rosemary oil. RESULTS: ROSM was the only group evolving to skin lesion remission, lack of edema and exudate, and mild-to-absent yeast cells. Rosemary oil delayed fungal spreading and protected systemic organs, mainly liver and spleen. The ROSM group presented lower fungal load than that observed for the CONT and ITRA groups (p<0.05). Antifungal action took place at complexation level after ergosterol application. Most compounds were 1,8-cineole/eucalyptol (47.91%), camphor (17.92%), and α-pinene (11.52%). CONCLUSIONS: These findings have evidenced that rosemary oil is a promising antifungal to treat sporotrichosis, since it protects systemic organs from fungal spread.


Asunto(s)
Aceites Volátiles , Rosmarinus , Animales , Ratas , Antifúngicos/farmacología , Antifúngicos/uso terapéutico , Itraconazol/farmacología , Aceites Volátiles/farmacología , Ratas Wistar , Sporothrix
5.
ISME J ; 15(5): 1505-1522, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33408368

RESUMEN

Iron (Fe), an essential element for plant growth, is abundant in soil but with low bioavailability. Thus, plants developed specialized mechanisms to sequester the element. Beneficial microbes have recently become a favored method to promote plant growth through increased uptake of essential micronutrients, like Fe, yet little is known of their mechanisms of action. Functional mutants of the epiphytic bacterium Azospirillum brasilense, a prolific grass-root colonizer, were used to examine mechanisms for promoting iron uptake in Zea mays. Mutants included HM053, FP10, and ipdC, which have varying capacities for biological nitrogen fixation and production of the plant hormone auxin. Using radioactive iron-59 tracing and inductively coupled plasma mass spectrometry, we documented significant differences in host uptake of Fe2+/3+ correlating with mutant biological function. Radioactive carbon-11, administered to plants as 11CO2, provided insights into shifts in host usage of 'new' carbon resources in the presence of these beneficial microbes. Of the mutants examined, HM053 exhibited the greatest influence on host Fe uptake with increased plant allocation of 11C-resources to roots where they were transformed and exuded as 11C-acidic substrates to aid in Fe-chelation, and increased C-11 partitioning into citric acid, nicotianamine and histidine to aid in the in situ translocation of Fe once assimilated.


Asunto(s)
Azospirillum brasilense , Azospirillum brasilense/genética , Hierro , Fijación del Nitrógeno , Reguladores del Crecimiento de las Plantas , Raíces de Plantas , Zea mays
7.
Nat Commun ; 11(1): 1616, 2020 04 07.
Artículo en Inglés | MEDLINE | ID: mdl-32265446

RESUMEN

The spread of traffic jams in urban networks has long been viewed as a complex spatio-temporal phenomenon that often requires computationally intensive microscopic models for analysis purposes. In this study, we present a framework to describe the dynamics of congestion propagation and dissipation of traffic in cities using a simple contagion process, inspired by those used to model infectious disease spread in a population. We introduce two macroscopic characteristics for network traffic dynamics, namely congestion propagation rate ß and congestion dissipation rate µ. We describe the dynamics of congestion spread using these new parameters embedded within a system of ordinary differential equations, similar to the well-known susceptible-infected-recovered (SIR) model. The proposed contagion-based dynamics are verified through an empirical multi-city analysis, and can be used to monitor, predict and control the fraction of congested links in the network over time.

8.
Eur J Med Genet ; 63(2): 103658, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31048080

RESUMEN

BACKGROUND: Pathogenic variants in the BCOR gene have been identified in males with X-linked recessive microphthalmia and in females with X-linked dominant oculofaciocardiodental (OFCD) syndrome. This latter condition has previously been regarded as rare but the increased availability of genetic testing in recent years has led to the identification of a greater number of patients. METHODS: We report the clinical and molecular findings in a series of 10 patients with pathogenic BCOR variants from 5 families, all seen in a single institution over a two year period. RESULTS: We emphasize the phenotypic variability in this cohort and the diverse genetic mechanisms involved which included point mutations and deletions of BCOR as well as the occurrence of gonadal and somatic mosaicism. CONCLUSION: In this report we demonstrate the novel findings of four newly identified variants in BCOR associated with an OFCD phenotype, and suggest that the frequency of this condition in females presenting with congenital cataract, including unilateral cataract, is more common than anticipated. We demonstrate the utility of screening for genetic causes of congenital cataract. Although gonadal mosaicism in OFCD had previously been reported, we demonstrate the presence of somatic mosaicism where BCOR mutations may only be detected in DNA from tissues other than blood such as buccal cells.


Asunto(s)
Catarata/congénito , Catarata/diagnóstico , Catarata/genética , Defectos de los Tabiques Cardíacos/diagnóstico , Defectos de los Tabiques Cardíacos/genética , Microftalmía/genética , Proteínas Proto-Oncogénicas/genética , Proteínas Represoras/genética , Anomalías Múltiples/genética , Anomalías Múltiples/fisiopatología , Estudios de Cohortes , Bases de Datos Genéticas , Femenino , Genes Ligados a X , Humanos , Lactante , Recién Nacido , Microftalmía/diagnóstico , Mosaicismo , Análisis de Secuencia por Matrices de Oligonucleótidos , Linaje , Fenotipo , Mutación Puntual , Enfermedades Raras/genética , Análisis de Secuencia de ADN , Eliminación de Secuencia
9.
Rev Sci Instrum ; 90(11): 115101, 2019 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-31779457

RESUMEN

This paper describes the design and operation of the Polaris time-of-flight powder neutron diffractometer at the ISIS pulsed spallation neutron source, Rutherford Appleton Laboratory, UK. Following a major upgrade to the diffractometer in 2010-2011, its detector provision now comprises five large ZnS scintillator-based banks, covering an angular range of 6° ≤ 2θ ≤ 168°, with only minimal gaps between each bank. These detectors have a substantially increased solid angle coverage (Ω âˆ¼ 5.67 sr) compared to the previous instrument (Ω âˆ¼ 0.82 sr), resulting in increases in count rate of between 2× and 10×, depending on 2θ angle. The benefits arising from the high count rates achieved are illustrated using selected examples of experiments studying small sample volumes and performing rapid, time-resolved investigations. In addition, the enhanced capabilities of the diffractometer in the areas of in situ studies (which are facilitated by the installation of a novel design of radial collimator around the sample position and by a complementary programme of advanced sample environment developments) and in total scattering studies (to probe the nature of short-range atomic correlations within disordered crystalline solids) are demonstrated.

10.
Accid Anal Prev ; 131: 95-111, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31233998

RESUMEN

The transportation network can provide additional utility by addressing the safety concerns on roads. On-road fatalities are an unfortunate loss of life and lead to significant costs for society and the economy. Connected and Autonomous Vehicles (CAVs), envisaged as operating with idealised safety and cooperation, could be a means of mitigating these costs. This paper intends to provide insights into the safety improvements to be attained by incrementally transitioning the fleet to CAVs. This investigation is done by constructing a calibrated microsimulation environment in Vissim and deploying the custom developed Virdi CAV Control Protocol (VCCP) algorithm for CAV behaviour. The CAV behaviour is implemented using an application programming interface and a dynamic linking library. CAVs are introduced to the environment in 10% increments, and safety performance is assessed using the Surrogate Safety Assessment Module (SSAM). The results of this study show that CAVs at low penetrations result in an increase in conflicts at signalised intersections but a decrease at priority-controlled intersections. The initial 20% penetration of CAVs is accompanied by a +22%, -87%, -62% and +33% change in conflicts at the signalised, priority, roundabout and DDI intersection respectively. CAVs at high penetrations indicate a global reduction in conflicts. A 90% CAV penetration is accompanied by a -48%, -100%, -98% and -81% change in conflicts at the signalised, priority, roundabout and DDI intersection respectively.


Asunto(s)
Accidentes de Tránsito/prevención & control , Conducción de Automóvil , Vehículos a Motor , Algoritmos , Entorno Construido , Calibración , Humanos , Seguridad , Programas Informáticos
11.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 819-827, May-June 2019. tab, graf
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1011330

RESUMEN

In this study, we described the antifungal activity of three Brazilian propolis extracts: brown, green and from jataí bees against Sporothrix brasiliensis. The extracts were obtained from ethanolic extraction and their chemical composition was determined by high-performance liquid chromatography coupled to mass spectrometry. The cellular toxicity was measured in MDBK (Madin-Darby Bovine Kidney) cells and quantified by the MTT assay (3- (4,5 dimethylthiazol-2yl -2,5-diphenyl-2H bromine tetrazolato). For antifungal activity, the minimum inhibitory concentration (MIC) and minimum fungicidal concentration (MFC) were determined by broth microdilution. The results showed that cell toxicity was not observed at lower concentrations (0.097 to 0.39μg/ml) for all extracts in comparison to cell control. Among the chemical compounds identified, caffeic acid, p-coumaric acid, chlorogenic acid, ferulic acid and rutin were quantified. In antifungal activity, green and jataí did not exhibit activity against the isolates (MIC and MFC greater than 0.78mg/ml). However, all isolates of S. brasiliensis were sensitive to brown propolis (MIC of 0.09 to 0.78mg/ml), including the standard strain (P<0.001). Among the Brazilian propolis studied, the brown propolis showed activity against the S. brasiliensis isolates and more studies should be undertaken in order to evaluate its promising use in the treatment of sporotrichosis.(AU)


Neste estudo, descreveu-se a atividade antifúngica de três extratos de própolis brasileiras: marrom, verde e de abelhas jataí (Tetragonisca angustula), contra Sporothrix brasiliensis. Os extratos foram obtidos de extração etanólica, e a sua composição química foi determinada por cromatografia líquida de alta eficiência, acoplada à espectrometria de massa. A toxicidade celular foi medida em células MDBK (Madin-Darby Bovine Kidney), avaliada por observação microscópica e quantificada pelo ensaio MTT (3- (4,5-dimetiltiazol-2-ilo -2,5-difenil-2H bromo tetrazolato). Para a atividade antifúngica, determinou-se a concentração inibitória mínima (CIM) e a concentração fungicida mínima (CFM) por meio de microdiluição em caldo. Os resultados mostraram que a toxicidade celular não foi observada em concentrações menores (0,097 a 0,39μg/ml). Entre os compostos químicos identificados, foram quantificados o ácido cafeico, ácido p-cumárico, ácido clorogênico, ácido ferúlico e a rutina. Na atividade antifúngica, as própolis verde e jataí não apresentaram atividade contra os isolados (CIM e CFM maior que 0,78mg/ml), porém todos os isolados de S. brasiliensis foram sensíveis à própolis marrom (CIM de 0,09 a 0,78mg/ml), incluindo a cepa padrão (P<0,001). Entre as própolis brasileiras estudadas, a marrom mostrou atividade contra S. brasiliensis, e mais estudos devem ser realizados para avaliar seu uso promissor no tratamento da esporotricose.(AU)


Asunto(s)
Humanos , Animales , Própolis/análisis , Própolis/uso terapéutico , Sporothrix/aislamiento & purificación , Itraconazol/uso terapéutico , Farmacorresistencia Fúngica , Apiterapia/veterinaria , Antifúngicos/análisis
12.
Rev Sci Instrum ; 90(3): 035110, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30927771

RESUMEN

The MAPS direct geometry time-of-flight chopper spectrometer at the ISIS pulsed neutron and muon source has been in operation since 1999, and its novel use of a large array of position-sensitive neutron detectors paved the way for a later generations of chopper spectrometers around the world. Almost two decades of experience of user operations on MAPS, together with lessons learned from the operation of new generation instruments, led to a decision to perform three parallel upgrades to the instrument. These were to replace the primary beamline collimation with supermirror neutron guides, to install a disk chopper, and to modify the geometry of the poisoning in the water moderator viewed by MAPS. Together, these upgrades were expected to increase the neutron flux substantially, to allow more flexible use of repetition rate multiplication and to reduce some sources of background. Here, we report the details of these upgrades and compare the performance of the instrument before and after their installation as well as to Monte Carlo simulations. These illustrate that the instrument is performing in line with, and in some respects in excess of, expectations. It is anticipated that the improvement in performance will have a significant impact on the capabilities of the instrument. A few examples of scientific commissioning are presented to illustrate some of the possibilities.

13.
PLoS One ; 12(9): e0184191, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28902854

RESUMEN

This study investigates the empirical presence of a theoretical transportation paradox, defined as the "Online Information Paradox" (OIP). The paradox suggests that, for certain road networks, the provision of online information deteriorate travel conditions for all users of that network relative to the situation where no online information is provided to users. The analytical presence of the paradox was derived for a specific network structure by using two equilibrium models, the first being the Expected User Equilibrium (EUE) solution (no information scenario) and the other being the User Equilibrium with Recourse (UER) solution (with information scenario). An incentivised computerised route choice game was designed using the concepts of experimental economics and administered in a controlled laboratory environment to investigate the physical presence of the paradox. Aggregate statistics of path flows and Total System Travel Costs (TSTC) were used to compare the experimental results with the theoretical findings. A total of 12 groups of 12 participants completed the experiment and the OIP and the occurrence of the OIP being significant was observed in 11 of the 12 cases. Though information increased travel costs for users on average, it reduced the volatility of travel costs experienced in the no information scenario indicating that information can achieve a more reliable system. Further replications of similar experiments and more importantly field based identification of the phenomena will force transport professionals to be aware of the emergence of the paradox. In addition, studies such as this emphasise the need for the adoption of adaptive traffic assignment techniques to appropriately model the acquisition of information on a road network.


Asunto(s)
Conducta de Elección/fisiología , Instrucción por Computador , Difusión de la Información/métodos , Sistemas en Línea , Transportes , Simulación por Computador , Humanos , Servicios de Información/normas , Mapas como Asunto , Modelos Teóricos , Transportes/métodos , Transportes/normas
14.
BMC Health Serv Res ; 17(1): 234, 2017 03 24.
Artículo en Inglés | MEDLINE | ID: mdl-28340614

RESUMEN

BACKGROUND: Family-focused practice (FFP) is an effective approach to supporting individuals with mental illness. 'Recovery' is also central to contemporary mental health care. However, there is a dearth of evidence about how the two concepts are related and subsequently implemented in practice. The aim of this study was to explore practitioners' understandings and practices of FFP within a recovery framework. METHODS: Purposive/snowball sampling was used to recruit and conduct qualitative interviews with 11 mental health practitioners in rural Australia. Concurrent sampling and data collection were informed by thematic analysis and continued until data saturation was reached. RESULTS: Participants found it difficult to articulate their understandings of FFP within a recovery framework. Nonetheless they were able to describe practices that embodied family-focused recovery. Barriers to such practices included medical models of care, where there are often a shortage of skilled staff and high demands for care. Stigma (self and from others) and confidentiality were also identified as barriers to involving family members in recovery focused care. CONCLUSIONS: Family-focused recovery care is a priority in many high-income countries. A family-focused recovery framework is needed to assist service planners, practitioners, family members and those with mental health needs and ensure such care is embedded within practice guidelines.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Trastornos Mentales/rehabilitación , Adulto , Actitud del Personal de Salud , Salud de la Familia , Medicina Familiar y Comunitaria , Femenino , Accesibilidad a los Servicios de Salud , Humanos , Masculino , Persona de Mediana Edad , Nueva Gales del Sur , Investigación Cualitativa , Salud Rural , Estigma Social , Apoyo Social , Victoria , Adulto Joven
15.
Arq. bras. med. vet. zootec ; 68(4): 991-999, jul.-ago. 2016. tab, graf
Artículo en Inglés | LILACS, VETINDEX | ID: lil-792489

RESUMEN

Rosmarinus officinalis L. (rosemary) and Origanum vulgare L. (oregano) are known to have antimicrobial properties, but studies on sporotrichosis are scarce. This study aimed to evaluate the anti-Sporothrix spp. activity of essential oils from commercial products and oils extracted from aerial parts of these plants and analyze their chemical constituents. S. schenckii complex and S. brasiliensis (n: 25) isolated from humans, cats, dogs, and environmental soil were tested through M27-A3 guidelines of CLSI with modification for phytotherapics. The essential oils of R. officinalis L. were similar for MIC50 and MFC50 ≤2.25mg/mL for extracted oil; and 4.5mg/mL and 9mg/mL, respectively, for commercial oil. Both products showed MIC90 of 18mg/mL and MFC90 of 36mg/mL. In O. vulgare L., the extracted oil had better activity with MIC50 and MFC50 ≤2.25mg/mL, and MIC90 and MFC90 of 4.5mg/mL, whereas the commercial oil showed MIC50 and MFC50 of 9mg/mL and MIC90 18mg/mL, respectively, and MFC90 of 36mg/mL. Through gas chromatography (CG/FID), thymol and α-terpinene were majority for extracted oil of O. vulgare L., and carvacrol and γ-terpinene made up the majority of the commercial oil. Both essential oils of R. officinalis L. showed 1,8-cineole and α-pinene as major. The fungal isolates were susceptible to all tested essential oils, including in itraconazole-resistant S. brasiliensis isolates. The extracted and commercial oils of the plants presented in vitro anti-Sporothrix spp. activity, and they are promising for treatment of sporotrichosis, including in cases refractory to itraconazole. More studies should be performed about toxicity and in vivo efficacy for its safe use.(AU)


Rosmarinus officinalis L. (alecrim) e Origanum vulgare L. (orégano) são conhecidos pelas propriedades antimicrobianas, entretanto seus estudos na esporotricose são escassos. Este trabalho objetivou avaliar a atividade anti-Sporothrix spp. de óleos extraídos e comerciais dessas plantas e analisar seus constituintes químicos. Isolados do complexo S. schenckii e S. brasiliensis (n: 25) de humanos, gatos, cães e solo, foram testados pela diretriz M27-A3 do CLSI com modificações para fitoterápicos. Os óleos de R. officinalis L. foram similares com CIM50 e CFM50 ≤2.25mg/mL para extraído; e 4.5mg/mL e 9mg/mL, respectivamente, para comercial. Ambos os produtos demonstraram CIM90 de 18mg/mL e CFM90 de 36mg/mL. Em O. vulgare L., o óleo extraído apresentou melhor atividade com CIM50 e CFM50≤2.25mg/mL e CIM90 e CFM90 de 4.5mg/mL, ao passo que o óleo comercial mostrou CIM50 e CFM50 de 9mg/mL; e CIM90 de 18mg/mL e CFM90 de 36mg/mL. Por meio da cromatografia gasosa (CG/FID), timol e α-terpineno foram majoritários para o óleo extraído de O. vulgare L., e carvacrol e γ-terpineno para o comercial. Ambos os óleos de R. officinalis L. apresentaram 1,8-cineol e α-pineno como prevalentes. Os isolados foram sensíveis a todos os óleos essenciais testados, inclusive S. brasiliensis, resistentes ao itraconazol. Os óleos extraídos e comerciais de R. officinalis L. e O. vulgare L. apresentaram atividade anti-Sporothrix spp. in vitro e são promissores para o tratamento da esporotricose, inclusive em casos refratários ao itraconazol. Mais estudos devem ser realizados sobre toxicidade e eficácia in vivo para seu uso seguro.(AU)


Asunto(s)
Humanos , Animales , Gatos , Perros , Antifúngicos/uso terapéutico , Lamiaceae , Origanum , Rosmarinus , Esporotricosis/prevención & control , Micosis/prevención & control , Micosis/veterinaria
16.
Eye (Lond) ; 30(9): 1175-81, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27315345

RESUMEN

PurposeIn addition to environmental causes such as TORCH infection, trauma and drug or chemical exposure, childhood cataracts (CC) frequently have a genetic basis. They may be isolated or syndromic and have been associated with mutations in over 110 genes. We have recently demonstrated that next-generation sequencing (NGS), a high throughput sequencing technique that enables the parallel sequencing of multiple genes, is ideally suited to the investigation of bilateral CC. This study assesses the diagnostic outcomes of traditional routine investigations and compares this with outcomes of NGS testing.MethodsA retrospective review of the medical records of 27 consecutive patients with bilateral CC presenting in 2010-2012 was undertaken. The outcomes of routine investigations in these patients, including TORCH screen, urinalysis, karyotyping, and urinary and plasma organic amino acids, were collated. The success of routine genetic investigations undertaken over 10 years (2000-2010) was also assessed.ResultsBy April 2014, the underlying cause of bilateral CC had been identified in just one of 27 patients despite 44% (n=12) receiving a full 'standard' investigative work-up and 22% (n=6) investigations in addition to the standard work-up. Fifteen of these patients underwent NGS testing and nine (60%) of these received a diagnosis for their CC.ConclusionThe frequency of patients receiving a diagnosis for their CC after standard care and the time taken to diagnosis was disappointing. NGS testing improved diagnostic rates and time to diagnosis, as well as changing clinical management. These data serve as a baseline for future evaluation of novel diagnostic modalities.


Asunto(s)
Catarata/diagnóstico , Catarata/genética , Proteínas del Ojo/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación , Catarata/congénito , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Pruebas Genéticas , Humanos , Lactante , Recién Nacido , Cariotipo , Masculino , Estudios Retrospectivos
17.
Rev Sci Instrum ; 87(12): 125111, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28040964

RESUMEN

A high power pulsed laser system has been installed on the high magnetic field muon spectrometer (HiFi) at the International Science Information Service pulsed neutron and muon source, situated at the STFC Rutherford Appleton Laboratory in the UK. The upgrade enables one to perform light-pump muon-probe experiments under a high magnetic field, which opens new applications of muon spin spectroscopy. In this report we give an overview of the principle of the HiFi laser system and describe the newly developed techniques and devices that enable precisely controlled photoexcitation of samples in the muon instrument. A demonstration experiment illustrates the potential of this unique combination of the photoexcited system and avoided level crossing technique.

18.
Risk Anal ; 34(8): 1391-400, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25041625

RESUMEN

Between April 2012 and June 2014, 820 laboratory-confirmed cases of the Middle East respiratory syndrome coronavirus (MERS-CoV) have been reported in the Arabian Peninsula, Europe, North Africa, Southeast Asia, the Middle East, and the United States. The observed epidemiology is different to SARS, which showed a classic epidemic curve and was over in eight months. The much longer persistence of MERS-CoV in the population, with a lower reproductive number, some evidence of human-to-human transmission but an otherwise sporadic pattern, is difficult to explain. Using available epidemiological data, we implemented mathematical models to explore the transmission dynamics of MERS-CoV in the context of mass gatherings such as the Hajj pilgrimage, and found a discrepancy between the observed and expected epidemiology. The fact that no epidemic occurred in returning Hajj pilgrims in either 2012 or 2013 contradicts the long persistence of the virus in human populations. The explanations for this discrepancy include an ongoing, repeated nonhuman/sporadic source, a large proportion of undetected or unreported human-to-human cases, or a combination of the two. Furthermore, MERS-CoV is occurring in a region that is a major global transport hub and hosts significant mass gatherings, making it imperative to understand the source and means of the yet unexplained and puzzling ongoing persistence of the virus in the human population.


Asunto(s)
Infecciones por Coronavirus/epidemiología , Coronavirus del Síndrome Respiratorio de Oriente Medio , Infecciones por Coronavirus/transmisión , Humanos , Islamismo , Conceptos Matemáticos , Modelos Biológicos , Modelos Estadísticos , Arabia Saudita/epidemiología , Viaje
19.
Transpl Infect Dis ; 16(3): 496-500, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24862024

RESUMEN

Increasing numbers of immunocompromised patients have led to a corresponding rise in the incidence of invasive Aspergillus infections. Despite advances in antifungal therapy coupled with reduction in immunosuppression, invasive aspergillosis is associated with significant morbidity and mortality. Although surgical debulking has proven effective in difficult-to-treat cases, patient comorbidities may prevent such intervention. Non-invasive alternatives to surgery are needed. Microwave ablation has many advantages over other ablative techniques, including convection profile, faster heating time, and higher intra-lesion temperatures, which may be associated with greater therapeutic efficacy. We report a case of microwave ablation as an adjunct to medical therapy in angioinvasive renal aspergilloma.


Asunto(s)
Técnicas de Ablación/métodos , Aspergilosis/cirugía , Enfermedades Renales/microbiología , Enfermedades Renales/cirugía , Trasplante de Hígado/efectos adversos , Microondas/uso terapéutico , Antifúngicos/uso terapéutico , Aspergilosis/tratamiento farmacológico , Humanos , Enfermedades Renales/tratamiento farmacológico , Masculino , Persona de Mediana Edad
20.
BJOG ; 120 Suppl 2: 123-8, v, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23841827

RESUMEN

The North American site in the INTERGROWTH-21(st) Project was North Seattle, Washington State, USA. The majority of the data were collected from within Seattle City, which has approximately 12 300 births per year. The sample for the Newborn Cross-Sectional Study (NCSS) was drawn from two hospitals (Swedish Medical Center and the University of Washington) covering almost 80% of deliveries within the target population. The Fetal Growth Longitudinal Study (FGLS) sample was recruited from several antenatal clinics serving the University of Washington Medical Center and Providence Everett Medical Center. Special activities to encourage participation and raise awareness of the studies included furnishing the recruitment sites with fliers designed by the Project Coordinating Unit, and presenting the studies to clinical staff to encourage providers to refer appropriate patients. One of the major challenges at this site was the low recruitment rate in the early phase of the FGLS because of the high rates of smoking, maternal age >35 years and body mass index >30 years. This was remedied by the inclusion of other ancillary clinics, as well as increased advertising among the general public.


Asunto(s)
Desarrollo Infantil , Desarrollo Fetal , Gráficos de Crecimiento , Recién Nacido/crecimiento & desarrollo , Estudios Multicéntricos como Asunto/métodos , Proyectos de Investigación , Pesos y Medidas Corporales , Protocolos Clínicos , Estudios Transversales/métodos , Femenino , Humanos , Lactante , Recien Nacido Prematuro/crecimiento & desarrollo , Estudios Longitudinales/métodos , Selección de Paciente , Embarazo , Ultrasonografía Prenatal , Washingtón
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