Results 101 to 110 of about 11,812,623 (407)
Association of the IL-10 gene family locus on chromosome 1 with juvenile idiopathic arthritis (JIA) [PDF]
, 2012 The cytokine IL-10 and its family members have been implicated in autoimmune diseases and we have previously reported that genetic variants in IL-10 were associated with a rare group of diseases called juvenile idiopathic arthritis (JIA). The aim of this
Bryant, A +12 more
core +4 more sources
Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions
罕见病研究Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj +1 more source
COVID-19, A New Possible Mimicker of Interstitial Lung Disease Related to Primary Sjögren’s Syndrome
Case Reports in Medicine, 2023 Introduction. Acute exacerbation of interstitial lung disease (ILD) and COVID-19 pneumonia show many similarities, but also COVID-19 sequelae, mainly when fibrotic features are present, can be difficult to distinguish from chronic ILD observed in ...
Alessia Laneri +7 more
doaj +1 more source
Expert Guidelines for the Diagnosis, Treatment, and Management of Mycosis Fungoides in China
罕见病研究, 2023 Mycosis fungoides (MF) is a cutaneous lymphoma originating from memory helper T cells. The lesion caused by classical type of MF is characterized by the progression from patches at early stages, advancing to more infiltrated plaques and eventually to ...
Rare Skin Disease Committee of China Alliance for Rare Diseases +2 more
doaj +1 more source
A Hybrid Framework with Large Language Models for Rare Disease Phenotyping [PDF]
BMC Med Inform Decis Mak 24, 289 (2024)Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual curation is time-consuming and prone to subjectivity.
arxiv +1 more source
A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer
Molecular Oncology, EarlyView.Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini +11 more
wiley +1 more source
Posterior Reversible Encephalopathy Syndrome and Azathioprine [PDF]
, 2019 Posterior reversible encephalopathy syndrome (PRES) is a rare syndrome that presents with neurological manifestations, often associated with arterial hypertension.
Corte-Real, A, Vilas-Boas, S
core +2 more sources
Scientific Reports, 2018 Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights ...
James H. R. Farmery +3 more
doaj +1 more source
The Challenge of Rare Diseases [PDF]
Chest, 2018 Rare diseases pose particular challenges to patients who are affected, to the clinicians who care for them, and to the investigators who study their conditions. Although individually uncommon, rare diseases are common in the aggregate, with approximately 7,000 described rare diseases affecting 25 to 30 million US adults.
openaire +3 more sources
Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors
Molecular Oncology, EarlyView.Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi +6 more
wiley +1 more source