Results 101 to 110 of about 4,732,768 (313)
Construction and Application of National Rare Diseases Registry System of China
, 2022 Rare diseases have been a major challenge for clinical medicine and public health challenge in China. One of the effective measures is to conduct proactive research on rare diseases to deal with the disease burden of the diseases. However, low prevalence,
CHENG Jingqiu +9 more
core +1 more source
Chronic pain and fatigue in multiple osteochondroma and Ollier disease, a systematic review
BMC Musculoskeletal DisordersIntroduction Multiple osteochondromas (MO) and Ollier disease are characterized by multiple tumours in the skeletal bones. They lead to bone deformity, restricted joint motion, interference with skeletal growth and increased risk of malignant ...
Ariane Kwiet +2 more
doaj +1 more source
Neutralization of the PTX3/CD44 axis suppresses TGF‐β1 signaling in kidney fibrosis
FEBS Letters, EarlyView.This study investigates how the PTX3/CD44 axis promotes kidney fibrosis by activating TGF‐β1 signaling. We demonstrate that the neutralizing antibody WHC‐001 effectively inhibits this pathway, suppressing myofibroblast activation and partial epithelial–mesenchymal transition (EMT).
Chao‐Chun Cheng +8 more
wiley +1 more source
Computer Vision in Medical Imaging and its Impact on the Rare Musculoskeletal Diseases
, 2023 There are over 6000 rare diseases in the world, affecting more than 300 million people. Early and precise diagnosis of rare diseases has always been the goal in clinical medicine.
LI Qing +5 more
core +1 more source
Molecular Oncology, EarlyView.Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur +11 more
wiley +1 more source
A Rare Complication of a Rare Disease [PDF]
Gastroenterology, 2019 Luke J. Nayak +2 more
openaire +2 more sources
Molecular Oncology, EarlyView.Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq +8 more
wiley +1 more source
Summary: Model of Care for Transition from Paediatric to Adult Healthcare Providers in Rare Diseases
, 2018 This document has been developed to assist healthcare professionals who provide care for young adults with rare diseases. It focuses specifically on guiding principles to support the successful transition of young adults who are living with a rare ...
National Clinical Programme for Rare Diseases
core
The cumulative incidence and trends of rare diseases in South Korea: a nationwide study of the administrative data from the National Health Insurance Service database from 2011-2015 [PDF]
, 2019 BACKGROUND: The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the ...
김지현, 김영광, 윤진하
core +1 more source