Results 61 to 70 of about 912,676 (170)

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

Orphanet Journal of Rare Diseases, 2020
The ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs).
C. Lampe, C. Dionisi-Vici, C. M. Bellettato, L. Paneghetti, C. van Lingen, S. Bond, C. Brown, A. Finglas, R. Francisco, S. Sestini, J. M. Heard, M. Scarpa, MetabERN collaboration group   +12 more
doaj   +1 more source

Longitudinal evolution of sleep disturbances in early multiple system atrophy: a 2‐year prospective cohort study

BMC Medicine, 2023
Background The progression of sleep disturbances remains unclear in patients with early multiple system atrophy (MSA). We aimed to explore the frequency, severity, and coexistence of 2-year longitudinal changes of sleep disturbances including REM sleep ...
Lingyu Zhang, Yanbing Hou, Chunyu Li, Qianqian Wei, Ruwei Ou, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Bi Zhao, Huifang Shang   +11 more
doaj   +1 more source

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study

Orphanet Journal of Rare Diseases
Background The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of diagnosis in this population group ...
Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov   +10 more
doaj   +1 more source

A pilot study of patient satisfaction with a self-completed tablet-based digital questionnaire for collecting the patient’s medical history in an emergency department

BMC Health Services Research, 2021
Background The increasing popularity and availability of tablet computers raises questions regarding clinical scenarios. This pilot study examined the patient’s satisfaction when using a tablet-based digital questionnaire as a tool for obtaining medical ...
Leander Melms, Juergen R. Schaefer, Andreas Jerrentrup, Tobias Mueller   +3 more
doaj   +1 more source

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

Glucosylceramide synthase modulation ameliorates murine renal pathologies and promotes macrophage effector function in vitro

Communications Biology
While significant advances have been made in understanding renal pathophysiology, less is known about the role of glycosphingolipid (GSL) metabolism in driving organ dysfunction.
Agnes Cheong, Florin Craciun, Hervé Husson, Joseph Gans, Javier Escobedo, Yi-Chien Chang, Lilu Guo, Mariana Goncalves, Nathan Kaplan, Laurie A. Smith, Sarah Moreno, Joseph Boulanger, Shiguang Liu, Jacqueline Saleh, Mindy Zhang, Anna S. Blazier, Weiliang Qiu, Andrew Macklin, Tejaswi Iyyanki, Clément Chatelain, Shameer Khader, Thomas A. Natoli, Oxana Ibraghimov-Beskrovnaya, Dimitry Ofengeim, Jonathan D. Proto   +24 more
doaj   +1 more source

Rare diseases [PDF]

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

A Rare Complication of a Rare Disease [PDF]

Gastroenterology, 2019
Luke J. Nayak, Arjun R. Sondhi, Maria Westerhoff   +2 more
openaire   +2 more sources

A Rare Opportunity in a Rare Disease [PDF]

Advances in Pulmonary Hypertension, 2018
Pulmonary hypertension (PH) is a chronic disease of the pulmonary vasculature, characterized by vessel remodeling that leads to increased pulmonary vascular resistance, right ventricular failure, and ultimately, death. While PH is somewhat simply defined as a mean pulmonary artery pressure (mPAP) on right heart catheterization (RHC) of greater than or ...
openaire   +1 more source

Adult sickle cell disease and SARS-CoV-2: an increasingly common comorbidity for a rare disease

Italian Journal of Medicine
Sickle cell disease (SCD) is a collection of genetic lesions that manifest in the diminished effectiveness of hemoglobin. We collected and reviewed the recent and extant literature on SARS-CoV-2 (COVID-19) and SCD.
Michaela Boggan, Christopher L. Edwards, Jordan Meek, Mary Wood, W. Jeff Bryson, John J. Sollers, Debra O. Parker, Camela S. Barker, Jessica Miller, Brianna Downey, Asha Lockett, Jazmin Rosales, Courtney Munroe, Jr., Noa Wax, Sharena Scott   +14 more
doaj   +1 more source