379 research outputs found

    IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES

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    The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases

    Practitioner compression force variation in mammography : a 6 year study

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    The application of breast compression in mammography may be more heavily influenced by the practitioner rather than the client. This could affect image quality and will affect client experience. This study builds on previous research to establish if mammography practitioners vary in the compression force they apply over a six year period. This longitudinal study assessed 3 consecutive analogue screens of 500 clients within one screening centre in the UK. Recorded data included: practitioner code, applied pressure (daN), breast thickness (mm), BI-RADS® density category and breast dose. Exclusion criteria included: previous breast surgery, previous/ongoing assessment, breast implants. 344 met inclusion criteria. Data analysis: assessed variation of compression force (daN) and breast thickness (mm) over 3 sequential screens to determine whether compression force and breast thickness were affected by practitioner variations. Compression force over the 3 screens varied significantly; variation was highly dependent upon the practitioner who performed the mammogram. Significant thickness and compression force differences over the 3 screens were noted for the same client (<0.0001). The amount of compression force applied was highly dependent upon the practitioner. Practitioners fell into one of three practitioner compression groups by their compression force mean values; high (mean 12.6daN), intermediate (mean 8.9daN) and low (mean 6.7daN). For the same client, when the same practitioner performed the 3 screens, maximum compression force variations were low and not significantly different (p>0.31). When practitioners from different compression force groups performed 3 screens, maximum compression force variations were higher and significantly different (p<0.0001). The amount of compression force used is highly dependent upon practitioner rather than client. This has implications for radiation dose, patient experience and image quality consistency

    SOXS: a wide band spectrograph to follow up transients

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    SOXS (Son Of X-Shooter) will be a spectrograph for the ESO NTT telescope capable to cover the optical and NIR bands, based on the heritage of the X-Shooter at the ESO-VLT. SOXS will be built and run by an international consortium, carrying out rapid and longer term Target of Opportunity requests on a variety of astronomical objects. SOXS will observe all kind of transient and variable sources from different surveys. These will be a mixture of fast alerts (e.g. gamma-ray bursts, gravitational waves, neutrino events), mid-term alerts (e.g. supernovae, X-ray transients), fixed time events (e.g. close-by passage of minor bodies). While the focus is on transients and variables, still there is a wide range of other astrophysical targets and science topics that will benefit from SOXS. The design foresees a spectrograph with a Resolution-Slit product ~ 4500, capable of simultaneously observing over the entire band the complete spectral range from the U- to the H-band. The limiting magnitude of R~20 (1 hr at S/N~10) is suited to study transients identified from on-going imaging surveys. Light imaging capabilities in the optical band (grizy) are also envisaged to allow for multi-band photometry of the faintest transients. This paper outlines the status of the project, now in Final Design Phase.Comment: 12 pages, 14 figures, to be published in SPIE Proceedings 1070

    Increased survival among lower-birthweight children in Southern Brazil = Aumento en la sobrevida de ninos de grupos de peso bajo al nacer en Santa Catarina, Sur de Brasil

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    Article published in English and PortugueseOBJECTIVE: To analyze factors associated with survival in the first year of life. METHODS: A historical cohort study was carried out using data from live birth and mortality information systems, including 90,153 live birth records and 1,053 records of death before age one year in hospitals in the cities of Florianópolis and São José, Southern Brazil, between 1999 and 2006. Survival curves were estimated (Kaplan-Meier) for birthweight categories, date of birth (four-year periods), and type of maternity. Proportional hazard ratios for mortality were calculated using Cox regression. RESULTS: Survival (98.8%) did not change among all birthweight categories, but increased among babies born weighing under 2,000 g (77.7% to 81.2%, p=0.029), between 1999-2002 and 2003-2006. There was an increase in the proportion of babies under 2,000 g in the second period. Type of hospital was significantly associated with probability of survival. CONCLUSIONS: Probability of survival is higher among babies born in private hospitals and in the teaching hospital in all birthweight categories combined and for babies born weighing under 2,000 g. Survival among the latter increased in the most recent period. However, the infant mortality rate did not change between the two periods given the increase in the prevalence of children with ligther birth weight. = OBJETIVO: Analizar factores asociados con la sobrevida en el primer año de vida. MÉTODOS: Estudio de cohorte histórica realizado con datos de los sistemas de información de nacimiento y mortalidad sobre 90.153 registros de nacidos vivos y 1.053 registros de óbitos de menores de un año en hospitales de Florianópolis y Sao José, Sur de Brasil, entre 1999 y 2006. Fueron estimadas curvas de sobrevida (Kaplan-Meier) para grupos de peso al nacer, período (cuatrienios) y tipo de maternidad. Se calcularon tasas de riesgos proporcionales para óbitos utilizando regresión de Cox. RESULTADOS: La sobrevida (98,8%) no se modificó entre los grupos de peso, pero aumentó en los grupos de menos de 2.000g (77,7% para 81,2%, p=0,029) entre los cuatrienios de 1999 a 2002 y 2003 a 2006. Hubo aumento de menores de 2.000g en el segundo cuatrienio estudiado. El tipo de hospital fue asociado significativamente con la probabilidad de sobrevida. CONCLUSIONES: Hay mayor probabilidad de sobrevida entre nacidos en hospitales privados y en el hospital de enseñanza para todos los grupos de peso y para el grupo de menos de 2000 g. La sobrevida de los grupos de peso por debajo de 2000g aumentó en el cuadrienio más reciente. Mientras, el coeficiente de mortalidad infantil no disminuyó en ese período, ya que la prevalencia de los nacidos en grupos de menor peso también aumentó.Carlos Eduardo Andrade Pinheiro, Marco Aurélio Peres, Eleonora D' Ors

    The CRILIN calorimeter: gamma radiation resistance of crystals and SiPMs

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    The Crilin calorimeter is a semi-homogeneous calorimetric system based on Lead Fluoride (PbF2) crystals with UV-extended Silicon Photomultipliers (SiPMs) proposed for the Muon Collider. This study investigates the radiation resistance of crystals and SiPMs, subjected to 10 kGy gamma irradiation, equivalent to a 10-year service life in the Muon Collider. Our findings indicate that while PbF2 crystals exhibit a decrease in transmittance post-irradiation with partial recovery over time, the alternative PbWO4-Ultra Fast (PWO-UF) demonstrates exceptional radiation hardness, maintaining stable transmittance. SiPMs showed an increase in dark current and breakdown voltage post-irradiation, with less degradation observed in the SiPM biased during the exposure to radiation compared to the unbiased component. These results underscore the viability of PbF2 for radiation-tolerant calorimeters, though improvements in production homogeneity are needed. The superior performance of PWO-UF crystals suggests they are a promising alternative for high-radiation applications, but their higher cost must be carefully considered

    Is use of the internet in midlife associated with lower dementia incidence? Results from the English Longitudinal Study of Ageing

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    OBJECTIVES: Dementia is expected to affect one million individuals in the United Kingdom by 2025; its prodromal phase may start decades before its clinical onset. The aim of this study is to investigate whether use of internet from 50 years of age is associated with a lower incidence of dementia over a ten-year follow-up. METHODS: We analysed data based on 8,238 dementia free (at baseline in 2002-2004) core participants from the English Longitudinal Study of Ageing. Information on baseline use of internet was obtained through questionnaires; dementia casesness was based on participant (or informant) reported physician diagnosed dementia or overall score on the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE). Cox proportional hazards regression analysis was used for examining the relationship between internet use and incident dementia. RESULTS: There were 301 (5.01%) incident dementia cases during the follow-up. After full multivariable adjustment for potential confounding factors, baseline internet use was associated with a 40% reduction in dementia risk assessed between 2006-2012 (HR = 0.60 CI: 0.42-0.85; p < 0.05). CONCLUSION: This study suggests that use of internet by individuals aged 50 years or older is associated with a reduced risk of dementia. Additional studies are needed to better understand the potential causal mechanisms underlying this association

    Incidence trends of colorectal cancer in the early 2000s in Italy. Figures from the IMPATTO study on colorectal cancer screening

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    We utilised the IMPATTO study's archives to describe the 2000-2008 colorectal cancer (CRC) incidence rate trends in Italy, once screening programmes based on the faecal immunochemical test were implemented in different areas. Data on CRCs diagnosed in Italy from 2000 to 2008 in subjects aged 40-79 years were collected by 23 cancer registries. Incidence rate trends were evaluated as a whole and by macro-area (North-Centre and South-Islands), presence of a screening programme, sex, ten-year age class, anatomic site, stage at diagnosis, and pattern of diagnosis (screen-detected, non-screen-detected). The annual percent change (APC) of incidence rate trends, with 95% confidence intervals (95%CI), were computed. The study included 46,857 CRCs diagnosed in subjects aged 40-79 years, of which 2,806 were screendetected. The incidence rates in the North-Centre were higher than in the South and on the Islands. During the study period, screening programmes had been implemented only in the North-Centre and had a significant effect on incidence rates, with an initial sharp increase in incidence, followed by a decrease that started in the 3rd-4th years of screening. These incidence rate trends were exclusively due to modifications in the rates of stage I cases. After screening programmes started, incidence increased in all anatomic sites, particularly in the distal colon. The differential figures introduced by the implementation of screening programmes warrant a continuous surveillance of CRC incidence and mortality trends to monitor the impact of screening at a national level
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