Results 131 to 140 of about 11,812,623 (407)
A Rare Presentation of Invasive Tuberculosis of the Central Nervous System in an Immunocompetent Patient in a Nonendemic Country. [PDF]
, 2018 We herein report a rare case of a 25-year-old immunocompetent male patient with disseminated tuberculosis of central nervous system (CNS), first presenting as multiple cerebral lesions with no meningeal involvement. Subsequent diagnostic workup disclosed
Campillo, J +3 more
core +1 more source
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 +4 more
doaj +1 more source
Semi-supervised Rare Disease Detection Using Generative Adversarial Network [PDF]
arXiv, 2018 Rare diseases affect a relatively small number of people, which limits investment in research for treatments and cures. Developing an efficient method for rare disease detection is a crucial first step towards subsequent clinical research. In this paper, we present a semi-supervised learning framework for rare disease detection using generative ...
arxiv
Needs assessment study of rare diseases education for nurses and nursing students in Poland
Orphanet Journal of Rare Diseases, 2020 Background The treatment of rare diseases in contemporary health systems appears to be steadily gaining in importance, especially as the number of their occurrence is increasing.
D. Walkowiak, J. Domaradzki
semanticscholar +1 more source
Molecular Oncology, EarlyView.Chronic TGF‐β exposure drives epithelial HCC cells from a senescent state to a TGF‐β resistant mesenchymal phenotype. This transition is characterized by the loss of Smad3‐mediated signaling, escape from senescence, enhanced invasiveness and metastatic potential, and upregulation of key resistance modulators such as MARK1 and GRM8, ultimately promoting
Minenur Kalyoncu +11 more
wiley +1 more source
Rare Diseases in Portugal [PDF]
, 2016 Na União Europeia (UE) uma doença é considerada rara quando a prevalência observada é inferior a 1 caso em cada 2000 pessoas. No entanto, todos os indivíduos com doenças raras compreendem no seu conjunto cerca 30 milhões de cidadãos, ou seja, 6% a 8%
Brito e Costa, Paula, Isidro, Glória
core
Abnormal eye movements in spinocerebellar ataxia type 3
BMC Neurology, 2021 Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore the frequency of abnormal eye movements in Chinese patients with SCA3, to compare the demographic and clinical characteristics ...
Junyu Lin +9 more
doaj +1 more source
Difficulty-aware Meta-learning for Rare Disease Diagnosis [PDF]
arXiv, 2019 Rare diseases have extremely low-data regimes, unlike common diseases with large amount of available labeled data. Hence, to train a neural network to classify rare diseases with a few per-class data samples is very challenging, and so far, catches very little attention.
arxiv
Rare Disease Identification from Clinical Notes with Ontologies and Weak Supervision [PDF]
arXiv, 2021 The identification of rare diseases from clinical notes with Natural Language Processing (NLP) is challenging due to the few cases available for machine learning and the need of data annotation from clinical experts. We propose a method using ontologies and weak supervision.
arxiv
Molecular Oncology, EarlyView.Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells
Daniel J. Smit +19 more
wiley +1 more source