Results 11 to 20 of about 2,561 (186)

Rare diseases load through the study of a regional population. [PDF]

PLoS Genetics
Rare genetic diseases impact many people worldwide and are challenging to diagnose. In this study, we introduce a novel regional population cohort approach to identify pathogenic variants causing Mendelian diseases that occur more frequently within ...
Élisa Michel, Claudia Moreau, Laurence Gagnon, Mylène Gagnon, Josianne Leblanc, Jessica Tardif, Lysanne Girard, Jean Mathieu, Cynthia Gagnon, Mathieu Desmeules, Jean-Denis Brisson, Luigi Bouchard, Simon L Girard   +12 more
doaj   +2 more sources

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report [PDF]

Journal of Medical Case Reports
Background Spastic ataxia Charlevoix-Saguenay is a rare autosomal recessive neurodegenerative disorder characterized by a combination of spasticity, ataxia, and peripheral neuropathy.
Víctor Raggio, Andrea Rey, Camila Simoes, Florencia Birriel, Soledad Rodriguez, Kateryn Bentancor, Alejandra Tapié, Lucía Spangenberg   +7 more
doaj   +2 more sources

Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study [PDF]

BMJ Open
Introduction MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the GCK gene.
Marie-Ève Poitras, Luigi Bouchard, Samuel Legeay, Vanessa Tremblay-Vaillancourt, Amélie Fournier, Josianne Leblanc, Philippe Caron, Catherine Savard, Nathalie Bettez, Karine Tremblay   +9 more
doaj   +2 more sources

Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations

Stem Cell Research, 2022
More than 107 pathogenic variations were identified in Keratin 14 gene (KRT14) in patients affected by epidermolysis bullosa simplex (EBS), a rare skin disease with still no curative treatment.
Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Charles Morin, Audrey Dupérée, François Gros-Louis, Catherine Laprise   +8 more
doaj   +1 more source

It's time to take a sustainable approach to health care in the face of the challenges of the 21st century

One Health, 2023
Health challenges in the 21st century have become increasingly complex and global. The recent COVID-19 pandemic has only exacerbated the many problems faced by health care systems around the world and sadly, exposed various flaws. With ageing populations,
Catherine Laprise
doaj   +1 more source

Acti-DM1: Monitoring the Activity Level of People With Myotonic Dystrophy Type 1 Through Activity and Exercise Recognition

IEEE Access, 2021
Myotonic dystrophy type 1 (DM1) is a rare disease where the highest prevalence is found in the small geographical region of Saguenay-Lac-St-Jean in Quebec, Canada.
Kevin Chapron, Patrick Lapointe, Isabelle Lessard, Hans Darsmstadt-Belanger, Kevin Bouchard, Cynthia Gagnon, Melissa Lavoie, Elise Duchesne, Sebastien Gaboury   +8 more
doaj   +1 more source

Bacterial Biomarkers of the Oropharyngeal and Oral Cavity during SARS-CoV-2 Infection

Microorganisms, 2023
(1) Background: Individuals with COVID-19 display different forms of disease severity and the upper respiratory tract microbiome has been suggested to play a crucial role in the development of its symptoms.
William Bourumeau, Karine Tremblay, Guillaume Jourdan, Catherine Girard, Catherine Laprise   +4 more
doaj   +1 more source

SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India

Archives of Medicine and Health Sciences, 2016
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late infantile onset spastic ataxia and other neurological features.
M Suraj Menon, C Velayudhan Shaji, K Abdulkhayar Kabeer, G Parvathy   +3 more
doaj   +1 more source

Differential Scanning Calorimetry Fingerprints of Various Heat-Treatment Tempers of Different Aluminum Alloys

Metals, 2020
Heat-treatable cast and wrought aluminum alloys are widely used for structural applications in the automobile and aerospace industries. To assess and diagnose the production and quality problems related to industrial heat treatments, differential ...
Zhixing Chen, Kun Liu, Emad Elgallad, Francis Breton, X.-Grant Chen   +4 more
doaj   +1 more source

Effects of Ni Content and Alloying Elements on Electrical Conductivity, Mechanical Properties, and Hot Tearing Susceptibility of Al-Ni-Based Alloys

Engineering Proceedings, 2023
The Aluminum-Nickel alloy system exhibits good potential for rotor applications in electric vehicles, which require good castability, high electrical conductivity (EC), and mechanical strength.
Farnaz Yavari, Ahmed Y. Algendy, Mousa Javidani, Lei Ray Pan, X.-Grant Chen   +4 more
doaj   +1 more source