Results 41 to 50 of about 1,622,414 (348)

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

Generating health technology assessment evidence for rare diseases [PDF]

, 2014
Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen, Granados, Alicia, Guyatt, Gordon, Kent, Alastair, Shah, Nilay, van der Wilt, Gert Jan, Wong-Rieger, Durhane   +6 more
core   +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

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

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

The birth of a psychiatric orphan disorder: postpartum psychosis [Correspondence] [PDF]

, 2016
Feb 29 is officially marked as Rare Disease Day. Hitherto, more than 5800 rare diseases have been officially recognised, but none of these is an adult psychiatric disorder.
Bergink, Veerle, Di Florio, Arianna, Munk-Olsen, Trinne   +2 more
core   +2 more sources

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

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +1 more source

Stereotactic Body Radiation Therapy for Pediatric, Adolescent, and Young Adult Patients With Osteosarcoma: Local Control Outcomes With Dosimetric Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Osteosarcoma is a radioresistant tumor that may benefit from stereotactic body radiation therapy (SBRT) for locoregional control in metastatic/recurrent disease. We report institutional practice patterns, outcomes, toxicity, and failures in osteosarcoma patients treated with SBRT.
Jenna Kocsis, Shauna R. Campbell, Jonathan Jang, Eashwar Somasundaram, Chandana A. Reddy, Jacob G. Scott, Lilyana Angelov, Peter M. Anderson, Matteo Trucco, Zachary Burke, Lukas Nystrom, Nathan Mesko, Anthony Magnelli, Erin S. Murphy   +13 more
wiley   +1 more source