Author(s): Muffels IJJ; Waterham HR; D' Alessandro G; Zagnoli-Vieira G; Sacher M; Lefeber DJ; Van der Vinne C; Roifman CM; Gassen KLI; Rehmann H; Van Haaften-Visser DY; Nieuwenhuis ESS; Jackson SP; Fuchs SA; Wijk F; van Hasselt P;

Background: Deciphering variants of uncertain significance (VUS) represents a major diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts that aid the interpretation of pathogenicity and pathophysiology. To address this challenge, we propose a high-through ...

Article GUID: 39920830

Author(s): Smith EE; Phillips NA; Feldman HH; Borrie M; Ganesh A; Henri-Bhargava A; Desmarais P; Frank A; Badhwar A; Barlow L; Bartha R; Best S; Bethell J; Bhangu J; Black SE; Bocti C; Bronskill SE; Burhan AM; Calon F; Camicioli R; Campbell B; Coll ...

Lecanemab and donanemab are monoclonal antibody therapies that remove amyloid-beta from the brain. They are the first therapies that alter a fundamental mechanism, amyloid-beta deposition, in Alzheimer disease (AD). To inform Canadian decisions on approval and use of these drugs, the Canadian Con ...

Article GUID: 39893139

Author(s): Páez A; Gillman SO; Dogaheh SB; Carnes A; Dakterzada F; Barbé F; Dang-Vu TT; Ripoll GP;

Introduction: Changes in sleep physiology can predate cognitive symptoms by decades in persons with Alzheimer's disease (AD), but it remains unclear which sleep characteristics predict cognitive and neurodegenerative changes after AD onset. Methods: Using data from a prospective cohort of mild to moderate AD (n = 60), we analyzed non-rapid eye moveme ...

Article GUID: 39878233

Author(s): Meade O; Aehlig L; O' Brien M; Lawless A; McSharry J; Dragomir A; Hart JK; Keyworth C; Lavoie KL; Byrne M;

Objectives: Behaviour change interventions offered opportunistically by healthcare professionals can support patient health behaviour change. The Making Every Contact Count (MECC) programme in Ireland is a national programme to support healthcare professionals to use brief behavioural interventio ...

Article GUID: 39815763

Author(s): Smith C; Sim M; Ilyas Z; Gilani SZ; Suter D; Reid S; Monchka BA; Jozani MJ; Figtree G; Schousboe JT; Lewis JR; Leslie WD;

Vertebral fracture assessment (VFA) images from bone density machines enable the automated machine learning assessment of abdominal aortic calcification (ML-AAC), a marker of cardiovascular disease (CVD) risk. The objective of this study was to describe the risk of a major adverse cardiovascular ...

Article GUID: 39749990

Author(s): Chertkow H; Phillips N; Rockwood K; Anderson N; Andrew MK; Bartha R; Beaudoin C; Bélanger N; Bellec P; Belleville S; Bergman H; Best S; Bethell J; Bherer L; Black S; Borrie M; Camicioli R; Carrier J; Cashman N; Chan S; Crowshoe L; Cuello ...

The Canadian Consortium on Neurodegeneration in Aging (CCNA) was created by the Canadian federal government through its health research funding agency, the Canadian Institutes for Health Research (CIHR), in 2014, as a response to the G7 initiative to fight dementia. Two five-year funding cycles ( ...

Article GUID: 39636028

Author(s): Rezaei M; Liang M; Yalcin Z; Martin JH; Kazemi P; Bareke E; Ge ZJ; Fardaei M; Benadiva C; Hemida R; Hassan A; Maher GJ; Abdalla E; Buckett W; Bolze PA; Sandhu I; Duman O; Agrawal S; Qian J; Vallian Broojeni J; Bhati L; Miron P; Allias F; ...

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients ...

Article GUID: 39545410

Author(s): Samuel Olajide T; Oyerinde TO; Omotosho OI; Okeowo OM; Olajide OJ; Ijomone OM;

The existing literature on neurodegenerative diseases (NDDs) reveals a common pathological feature: the accumulation of misfolded proteins. However, the heterogeneity in disease onset mechanisms and the specific brain regions affected complicates the understanding of the diverse clinical manifestations of individual NDDs. Dementia, a hallmark symptom acro ...

Article GUID: 39364217

Author(s): Busteed L; García-Sánchez C; Pascual-Sedano B; Grunden N; Gironell A; Kulisevsky J; Pagonabarraga J;

Objective: The effects of stimulation frequency on verbal fluency (VF) following subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) are not well understood. The present study examines the impact stimulation frequency has on VF following bilateral STN-DBS in PD. ...

Article GUID: 39127889

Author(s): Rozenberg D; Reid WD; Camp P; Campos JL; Dechman G; Davenport PW; Egan H; Fisher JH; Guenette JA; Gold D; Goldstein RS; Goodridge D; Janaudis-Ferreira T; Kaplan AG; Langer D; Marciniuk DD; Moore B; Orchanian-Cheff A; Otoo-Appiah J; Pepin ...

Topic importance: Cognitive and physical limitations are common in individuals with chronic lung diseases, but their interactions with physical function and activities of daily living are not well characterized. Understanding these interactions and potential contributors may provide insights on d ...

Article GUID: 38901488

Author(s): Caballero HS; McFall GP; Gee M; MacDonald S; Phillips NA; Fogarty J; Montero-Odasso M; Camicioli R; Dixon RA;

Background: Alzheimer's disease (AD) and Lewy body disease (LBD) are characterized by early and gradual worsening perturbations in speeded cognitive responses. Objective: Using simple and choice reaction time tasks, we compared two indicators of cognitive speed within and across the AD and L ...

Article GUID: 38875040