Results 111 to 120 of about 11,812,623 (407)
Molecular Oncology, EarlyView.We quantified and cultured circulating tumor cells (CTCs) of 62 patients with various cancer types and generated CTC‐derived tumoroid models from two salivary gland cancer patients. Cellular liquid biopsy‐derived information enabled molecular genetic assessment of systemic disease heterogeneity and functional testing for therapy selection in both ...
Nataša Stojanović Gužvić +31 more
wiley +1 more source
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. [PDF]
, 2019 It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene1. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most ...
Ashley, Euan A +35 more
core
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 +3 more
doaj +1 more source
Annali dell'Istituto superiore di sanita, 2011 I pazienti affetti da malattie rare sono in attesa di una risposta ai loro bisogni. Tuttavia la ricerca sulle malattie rare è stata tradizionalmente limitata dall’idea che fosse troppo difficile da condurre e troppo poco remunerativa in termini di profitto.
G. Remuzzi, A. Schieppati
openaire +5 more sources
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer
Molecular Oncology, EarlyView.We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas +15 more
wiley +1 more source
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 +12 more
doaj +1 more source
Feature-context driven Federated Meta-Learning for Rare Disease Prediction [PDF]
arXiv, 2021 Millions of patients suffer from rare diseases around the world. However, the samples of rare diseases are much smaller than those of common diseases. In addition, due to the sensitivity of medical data, hospitals are usually reluctant to share patient information for data fusion citing privacy concerns.
arxiv
Adopting Quality Criteria for Websites Providing Medical Information About Rare Diseases [PDF]
, 2016 BACKGROUND: The European Union considers diseases to be rare when they affect less than 5 in 10,000 people. It is estimated that there are between 5000 and 8000 different rare diseases. Consistent with this diversity, the quality of information available
Babac, Ana +13 more
core +4 more sources
Whipple's disease with constrictive pericarditis: A rare disease with a rare presentation [PDF]
Canadian Journal of Cardiology, 2009 Whipple's disease is a multisystem disease that can affect the heart with predominantly endocardial and pericardial involvement and, less often, myocardial inflammation. Previously diagnosed at autopsy, cardiac involvement in Whipple's disease is being recognized clinically more often. A 58-year-old man with Whipple's-related constrictive pericarditis,
John P. Veinot +4 more
openaire +3 more sources
Molecular Oncology, EarlyView.Cancer stem cells are associated with aggressive disease, but a deep characterization of such markers is lacking in endometrial cancer. This study uses imaging mass cytometry to explore putative cancer stem cell markers in endometrial tumors and corresponding organoid models.
Hilde E. Lien +7 more
wiley +1 more source