Search results for "Rey"
showing 10 items of 639 documents
Impairment of Everyday Spatial Navigation Abilities in Mild Cognitive Impairment Is Weakly Associated with Reduced Grey Matter Volume in the Medial P…
2020
Alzheimer’s Disease Neuroimaging Initiative.
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With L…
2020
Contains fulltext : 220040.pdf (Publisher’s version ) (Closed access) BACKGROUND & AIMS: Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome-associated variants in MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an international cohort of patients. METHODS: We combined clinical and molecular data from 3 studies. We obtained clinical data from 2747 patients with Lynch syndrome associated with variants in MLH1, MSH2, or MSH6 from Germany, the Net…
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? : Somatic mutational profiles vs. ovarian and colorectal carcinomas
2020
// Noora K. Porkka 1 , Alisa Olkinuora 1 , Teijo Kuopio 2 , 3 , Maarit Ahtiainen 4 , Samuli Eldfors 5 , Henrikki Almusa 5 , Jukka-Pekka Mecklin 6 , 7 , 8 and Paivi Peltomaki 1 1 Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland 2 Department of Pathology, Jyvaskyla Central Hospital, Jyvaskyla, Finland 3 Department of Biological and Environmental Science, University of Jyvaskyla, Jyvaskyla, Finland 4 Department of Education and Research, Jyvaskyla Central Hospital and University of Eastern Finland, Jyvaskyla, Finland 5 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland 6 Faculty of Sport and Health Sciences, University of J…
Parasites in the changing world – Ten timely examples from the Nordic-Baltic region
2020
Publisher's version (útgefin grein)
Mice are not Men: ADAM30 Findings Emphasize a Broader Look Towards Murine Alzheimer's Disease Models
2016
Due to the growing population of people at advanced age, the number of patients affected by Alzheimer's disease (AD) is increasing tremendously. In 2015 about 46.8 million people suffered from AD worldwide which is estimated to increase to 131.5 million by 2050. Brains of AD patients all show a common histopathology; they are marked by an atrophy and degeneration that is caused by a severe loss of neurons and synapses (Braak and Del Tredici, 2012). Moreover, so-called extracellular senile plaques that consist of predominantly amyloid β (Aβ) peptides can be detected in the grey matter where they surround neurons. Since generation of Aβ peptides is hypothesized to play a major role in AD path…
Secondary Progression in Multiple Sclerosis: Neuronal Exhaustion or Distinct Pathology?
2016
Prevention of progression in neurological diseases, particularly in multiple sclerosis (MS) but also in neurodegenerative diseases, remains a significant challenge. MS patients switch from a relapsing-remitting to a progressive disease course, but it is not understood why and how this conversion occurs and why some patients never experience disease progression. Do aging and accumulation of neuronal damage induce progression, or do cognitive symptoms and accelerated grey matter (GM) atrophy point to distinct processes affecting networks? This review weighs accepted dogma against real data on the secondary progressive phase of the disease, highlighting current challenges in this important fie…
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Sy…
2021
Abstract Purpose To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR ( path_MMR ) variants. Methods The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages. Results Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path_MLH1 , path_MSH2 , path_MSH6 , and path_PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively. Risk-reducing BSO at 25 years of age prevents ovarian cancer before 50 years in 6%, 11%, 2%, and 0% and…
Impact of the information provided to consumers on their willingness to pay for Champagne : comparison with hedonic scores
2002
International audience; L'étude a été effectuée afin de comparer deux mécanismes destinés à révéler les préférences des consommateurs : une enchère Vickrey qui mesure la disposition à payer, et un test hédonique classique. A travers ces deux méthodes, l'objectif était d'estimer les effets respectifs des caractéristiques sensorielles et de l'information externe sur l'évaluation de cinq champagnes brut non millésimés. Cent-ving-trois consommateurs ont été assignés au hasard aux deux groupes et ont utilisé l'une des méthodes. Quelle que soit la méthode, ils ont évalué les champagnes à l'aveugle, puis sur la base d'une présentation des bouteilles et, enfin, après l'observation de la bouteille e…
Children with Down syndrome in Finland and Italy: comparing adaptive behavior and services
2016
Objectives: The aim of this study was to compare a sample of Italian (n = 29) and Finnish children (n = 32) with Down syndrome for possible differences emerging from diverse educational surroundings. Besides the level of adaptive and challenging behaviors, some other issues were compared, including teacher satisfaction. Methods: We used the children’s teachers as informants. They were interviewed using standardized scales. Results: No differences in adaptive behavior or challenging behavior were observed between the samples. All children from the Italian sample were fully included in mainstream classes, while in the Finnish sample, 92% of all the school years were spent in self-contained sp…
Effectiveness of child protection practice models : a systematic review
2020
Background Attempts to improve child protection outcomes by implementing social work practice models embedded in a particular theory and practice approach, have increased internationally over the past decade. Objective To assess the evidence of the effectiveness of child protection practice models in improving outcomes for children and families. Participants and setting Children < 18 years and their families involved in child protection services. Methods A systematic review was conducted to synthesize evidence regarding the effectiveness of child protection practice models. Systematic searches across 10 electronic databases and grey literature were conducted to identify quasi-experimental s…