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Stephanie H. Ameis John D. Haltigan Rachael E. Lyon Amanda Sawyer Pat Mirenda Connor M. Kerns Isabel M. Smith Tracy Vaillancourt Joanne Volden Charlotte Waddell Lonnie Zwaigenbaum Teresa Bennett Eric Duku Mayada Elsabbagh Stelios Georgiades Wendy J. Ungar Anat Zaidman-Zait Meng-Chuan Lai Peter Szatmari for the Pathways in ASD Study Team 《Journal of child psychology and psychiatry, and allied disciplines》2022,63(5):553-562
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Li Sun Zia Sadique Isabel dos-Santos-Silva Li Yang Rosa Legood 《International journal of cancer. Journal international du cancer》2019,144(10):2596-2604
In low and middle-income countries mammographic breast cancer screening is prohibitively expensive and a cheaper alternative option is to use ultrasound as the primary screening test. In 2009, China launched a breast cancer screening programme for rural women aged 35–64 years with clinical breast examination coupled with ultrasound as the primary tool. Our study aimed to analyse the cost-effectiveness of breast screening compared to no screening among Chinese rural women. We developed a Markov model to estimate the lifetime costs and effects for rural women aged 35 years from a societal perspective. Asymptomatic women in the intervention arm were screened every 3 years before age 64 years. Breast cancer in the non-screening arm can only be diagnosed on presentation of symptoms. Parameter uncertainty was explored using one-way and probabilistic sensitivity analyses. Compared to no screening, breast cancer screening cost $186.7 more and led to a loss of 0.20 quality-adjusted life years (QALYs). Breast screening was more expensive and did harm to health among rural women with an incremental cost-effectiveness ratio (ICER) of $-916/QALY. The sensitivity analysis identified utility loss from false positives as the factor that most influenced the results, but this did not affect the conclusions. In a rural setting with such low breast cancer incidence, screening for asymptomatic disease is not cost-effective with current screening tools. Priority should be given to ensure that symptomatic women have proper access to diagnosis and treatment at an early stage as this will lead to mortality reductions without the usual screening harms. 相似文献
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Sonia Moreno-Grau Itziar de Rojas Isabel Hernández Inés Quintela Laura Montrreal Montserrat Alegret Begoña Hernández-Olasagarre Laura Madrid Antonio González-Perez Olalla Maroñas Maitée Rosende-Roca Ana Mauleón Liliana Vargas Asunción Lafuente Carla Abdelnour Octavio Rodríguez-Gómez Silvia Gil Miguel Ángel Santos-Santos Agustín Ruiz 《Alzheimer's & dementia》2019,15(10):1333-1347
IntroductionLarge variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways.MethodsGenome Research at Fundacio ACE ([email protected]) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, [email protected] series were meta-analyzed with additional genome-wide association study data sets.ResultsWe classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444.DiscussionThe regulation of vasculature is a prominent causal component of probable AD. [email protected] meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series. 相似文献
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Luis Fornazzari Julian Haladyn Tamara Toledo Melissa Leggieri Isabel Friszberg Joseph Barfett 《Neurocase》2020,26(3):131-136
ABSTRACT Skilled professional artists are sometimes able to maintain their talents while other cognitive functions deteriorate due to brain diseases. The objective of this study is to asses the preserved artistry of a professional painter in spite of the presence of strokes affecting brain areas implicated in art expression. She had a neurologic evaluation and brain imaging after the stroke; painter-curators analyzed and compared the painter’s pictorial artwork created before and after the stroke. In spite of cerebellar, visuospatial, motor, cognitive, and functional deficits likely related to strokes affecting bilateral cerebellar, left occipital, and right temporal-occipital areas, the patient was able to maintain most of their artistic painting skills.. After a short period of functional recovery, our patient showed discrepancy among their impaired cerebellar cerebral functions in day activities and their preserved painting abilities. 相似文献
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Javier Jarazo PhD Kyriaki Barmpa MSc Jennifer Modamio PhD Cláudia Saraiva PhD Sònia Sabaté-Soler MSc Isabel Rosety MSc Anne Griesbeck PhD Florian Skwirblies BSc Gaia Zaffaroni PhD Lisa M. Smits PhD Jihui Su BSc Jonathan Arias-Fuenzalida PhD Jonas Walter PhD Gemma Gomez-Giro PhD Anna S. Monzel PhD Xiaobing Qing PhD Armelle Vitali MSc Gerald Cruciani MSc Ibrahim Boussaad PhD Francesco Brunelli PhD Christian Jäger PhD Aleksandar Rakovic PhD Wen Li PhD Lin Yuan PhD Emanuel Berger PhD Giuseppe Arena PhD Silvia Bolognin PhD Ronny Schmidt PhD Christoph Schröder PhD Paul M.A. Antony PhD Christine Klein MD Rejko Krüger MD Philip Seibler PhD Jens C. Schwamborn PhD 《Movement disorders》2022,37(1):80-94