Results 41 to 50 of about 1,609,120 (298)

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

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +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

Posterior Reversible Encephalopathy Syndrome and Azathioprine [PDF]

, 2019
Posterior reversible encephalopathy syndrome (PRES) is a rare syndrome that presents with neurological manifestations, often associated with arterial hypertension.
Corte-Real, A, Vilas-Boas, S
core   +2 more sources

Quality of life status determinants in hypertrophic cardiomyopathy as evaluated by the Kansas City Cardiomyopathy Questionnaire

Health and Quality of Life Outcomes, 2020
Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota, Sebastian Militaru, Alin Alexandru Ionescu, Monica Rosca, Cristian Baicus, Bogdan Alexandru Popescu, Ruxandra Jurcut   +6 more
doaj   +1 more source

Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Orphanet Journal of Rare Diseases, 2021
Background One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new ...
Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke, Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases   +20 more
doaj   +1 more source

Expert Guidelines for the Diagnosis, Treatment, and Management of Mycosis Fungoides in China

罕见病研究, 2023
Mycosis fungoides (MF) is a cutaneous lymphoma originating from memory helper T cells. The lesion caused by classical type of MF is characterized by the progression from patches at early stages, advancing to more infiltrated plaques and eventually to ...
Rare Skin Disease Committee of China Alliance for Rare Diseases, National Clinical Research Center for Dermatologic and Immunologic Diseases, Dermatology Branch of China International Exchange and Promotion Association for Medical and Health Care   +2 more
doaj   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

The Promise of Priority Review Vouchers as a Legislative Tool to Encourage Drugs for Neglected Diseases [PDF]

, 2013
Despite the intellectual property system’s success in promoting the economic well-being of the United States, this system has not achieved all socially valuable ends.
Hamming, Lesley
core   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source