Results 51 to 60 of about 11,812,623 (407)

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Orphanet Journal of Rare Diseases, 2021
Background During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one.
D. Walkowiak, J. Domaradzki
semanticscholar   +1 more source

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8 mnd mice

Orphanet Journal of Rare Diseases, 2022
Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer   +6 more
doaj   +1 more source

Model consent clauses for rare disease research [PDF]

, 2019
Background: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing.
Goldblatt, Jack, Isasi, Rosario, Jagut, Marlene, Jonker, Anneliene Hechtelt, Kaufmann, Petra, Kautmann, Petra, Knoppers, Bartha, Knoppers, Bartha Maria, Molnar-Gabor, Fruszina, Nguyen, Minh Thu, Ouillade, Laetitia, Shabani, Mahsa, Sid, Eric, Tasse, Anne Marie, Tasse, Anne-Marie, Wong-Rieger, Durhane   +15 more
core   +1 more source

Rare diseases

Journal of Prescribing Practice
In this month's article, George Winter looks at how ethical concerns about rare diseases may only be addressed by using the language of the ...
George Winter
semanticscholar   +2 more sources

Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs) [PDF]

, 2015
Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. Method: Retrospective review by a consultant in rehabilitation medicine of electronic
Andrew O. Frank, Beauchamp M, British Society of Rehabilitation Medicine, Department of Health, Fortini D, Frank AO, Frank AO, Gibilisco P, Kodama TK., Leigh PN, Lorraine H. De Souza, Mangin D, Matallana AM, Rare Disease UK, Rare Disease UK, Rare Disease UK., Rare Disease UK., Rare Diseases UK., Schoser B   +18 more
core   +3 more sources

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks

Orphanet Journal of Rare Diseases, 2022
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events.
Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga, Francisco H. Nociti   +7 more
doaj   +1 more source

Cost-of-illness studies in rare diseases: a scoping review

Orphanet Journal of Rare Diseases, 2021
Objective The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases. Methods We searched papers published in English in PubMed from January 2007 to December 2018.
L. García-Pérez, R. Linertová, C. Valcárcel-Nazco, M. Posada, I. Gorostiza, P. Serrano-Aguilar   +5 more
semanticscholar   +1 more source

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

Journal of Biochemical and Clinical Genetics, 2019
Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT).
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini   +11 more
doaj   +1 more source

The use of machine learning in rare diseases: a scoping review

Orphanet Journal of Rare Diseases, 2020
Background Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases.
Julia Schaefer, M. Lehne, Josef Schepers, F. Prasser, S. Thun   +4 more
semanticscholar   +1 more source

Sterol auto-oxidation adversely affects human motor neuron viability and is a neuropathological feature of amyotrophic lateral sclerosis

Scientific Reports, 2021
Aberrant cholesterol homeostasis is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease that is due to motor neuron (MN) death. Cellular toxicity from excess cholesterol is averted when it is enzymatically
James C. Dodge, Jinlong Yu, S. Pablo Sardi, Lamya S. Shihabuddin   +3 more
doaj   +1 more source