Results 81 to 90 of about 1,622,414 (348)

Rare diseases [PDF]

Thorax, 1999
C M ROBERTS;, A E TATTERSFIELD, R M DU BOIS   +2 more
openaire   +4 more sources

Multi-criteria decision analysis for assessment and appraisal of orphan drugs

Frontiers in Public Health, 2016
Background: Limited resources and expanding expectations push all countries and types of health systems to adopt new approaches in priority setting and resources allocation.
Georgi Iskrov, Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Tsonka Miteva-Katrandzhieva, Rumen Stefanov, Rumen Stefanov   +5 more
doaj   +1 more source

RARE DISEASES AND GENETIC DISCRIMINATION [PDF]

, 2011
Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world.
Mariela Yaneva – Deliverska
core  

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. [PDF]

, 2019
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC).
Beaure d'Augères, Guillaume, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, Dahlin, Maria, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, TOSCA Consortium and TOSCA Investigators, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard   +29 more
core   +2 more sources

Interplay between circadian and other transcription factors—Implications for cycling transcriptome reprogramming

FEBS Letters, EarlyView.
This perspective highlights emerging insights into how the circadian transcription factor CLOCK:BMAL1 regulates chromatin architecture, cooperates with other transcription factors, and coordinates enhancer dynamics. We propose an updated framework for how circadian transcription factors operate within dynamic and multifactorial chromatin landscapes ...
Xinyu Y. Nie, Jerome S. Menet
wiley   +1 more source

Longitudinal evolution of motor and non-motor symptoms in early-stage multiple system atrophy: a 2-year prospective cohort study

BMC Medicine, 2022
Background The progression of motor and non-motor symptoms (NMS) and the sensitivity of each item of the Unified Multiple System Atrophy Rating Scale (UMSARS) to change remain unclear in Chinese patients with early-stage multiple system atrophy (MSA). We
Lingyu Zhang, Yanbing Hou, Bei Cao, Qianqian Wei, Ruwei Ou, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Yongping Chen, Wei Song, Bi Zhao, Huifang Shang   +12 more
doaj   +1 more source

Neurosyphilis presenting with papillitis [PDF]

, 2017
Syphilis is one of the oldest described infectious diseases in the world and is caused by the spirochete bacterium Treponema pallidum[1]. Although now a rare disease, incidence is increasing with the number of diagnoses of the disease rising in England ...
Cooper, Sarah, Corry, Shona, Perry, Martin Edward   +2 more
core   +4 more sources

Mechanisms of parasite‐mediated disruption of brain vessels

FEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira, Sílvia Arroz‐Madeira, Cláudio A. Franco, Sara Silva Pereira   +3 more
wiley   +1 more source

One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN

Orphanet Journal of Rare Diseases, 2022
Background Since the beginning of the COVID-19 pandemic, MetabERN has been monitoring the SARS-CoV-2 infection rates within its metabolic community. To gather data on the total number of cases and the severity of symptoms among IMD patients one year into
Laura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, Karolina M. Stepien, Maurizio Scarpa   +4 more
doaj   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source