Results 151 to 160 of about 11,812,623 (407)
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 +2 more
core +2 more sources
Multi-task Learning via Adaptation to Similar Tasks for Mortality Prediction of Diverse Rare Diseases [PDF]
arXiv, 2020 Mortality prediction of diverse rare diseases using electronic health record (EHR) data is a crucial task for intelligent healthcare. However, data insufficiency and the clinical diversity of rare diseases make it hard for directly training deep learning models on individual disease data or all the data from different diseases. Mortality prediction for
arxiv
The case for open science: rare diseases.
JAMIA Open, 2020 The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community.
Y. Rubinstein +24 more
semanticscholar +1 more source
Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma
Molecular Oncology, EarlyView.GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski +19 more
wiley +1 more source
RDmap: a map for exploring rare diseases
Orphanet Journal of Rare Diseases, 2020 Background The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians.
Jian Yang +4 more
semanticscholar +1 more source
FEBS Open Bio, EarlyView.This review highlights how foundation models enhance predictive healthcare by integrating advanced digital twin modeling with multiomics and biomedical data. This approach supports disease management, risk assessment, and personalized medicine, with the goal of optimizing health outcomes through adaptive, interpretable digital simulations, accessible ...
Sakhaa Alsaedi +2 more
wiley +1 more source
FEBS Open Bio, EarlyView.Etoposide, a topoisomerase II inhibitor, reduces O‐GlcNAcylation in HepG2 liver cancer cells. Further inhibition of O‐GlcNAc transferase by OSMI‐1 enhanced etoposide‐induced apoptosis, lowering the IC50 for viability and increasing the EC50 for cytotoxicity.
Jaehoon Lee +5 more
wiley +1 more source
Communications BiologyWhile 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 +24 more
doaj +1 more source
A Rare Complication of a Rare Disease [PDF]
Gastroenterology, 2019 Luke J. Nayak +2 more
openaire +3 more sources
Comparative study of adenosine 3′‐pyrophosphokinase domains of MuF polymorphic toxins
FEBS Open Bio, EarlyView.With the ultimate goal of understanding the association of toxin‐immunity modules to temperate phages, we characterized toxins from three prophages and examined cross‐protection from immunity proteins. The toxins exhibit adenosine 3′‐pyrophosphokinase activity and are toxic in Escherichia coli.
Eloïse M. Paulet +6 more
wiley +1 more source