Rare diseases are an important public health issue and a challenge to healthcare. Over the past few years, China has actively worked to improv rare disease care and orphan drugs for rare diseases, but many challenges still remain. In order to further promote measures to combat rare diseases, the "National Network to Collaborate on Diagnosis and Treatment of Rare Diseases" was established by the National Health Commission of the People's Republic of China on February 12, 2019. This network for collaboration consists of 324 hospitals nationwide, and its aim is to set up a practical mechanism for an effective alliance by different tiers of the healthcare system. The strategy for collaboration includes six programs: ) to establish a mechanism for collaboration, ) to implement standards of care, ) to enhance quality control, ) to ensure the supply of drugs, ) to set up a registry, and ) to enhance clinical research. These programs will play a pivotal role in combating rare diseases in the future and eventually achieving the goal of creating a proper and consistent mechanism to treat and manage rare diseases.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409119 | PMC |
http://dx.doi.org/10.5582/irdr.2019.01024 | DOI Listing |
Neurology
February 2025
Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, People's Republic of China.
Background And Objectives: Mitochondrial disorders are multiorgan disorders resulting in significant morbidity and mortality. We aimed to characterize death-associated factors in an international cohort of deceased individuals with mitochondrial disorders.
Methods: This cross-sectional multicenter observational study used data provided by 26 mitochondrial disease centers from 8 countries from January 2022 to March 2023.
Pulmonology
December 2025
Department of Medical Specialities, Pulmonology Unit, GB Morgagni-L. Pierantoni Hospital, Forlì, Italy.
Fibrotic hypersensitivity pneumonitis (f-HP) is an interstitial lung disease in which various antigens in susceptible individuals may play a pathogenetic role. This study evaluates the role of transbronchial lung cryobiopsy (TBLC) and bronchoalveolar lavage (BAL) in identifying a UIP-like pattern and its association with fibrosis progression. We conducted a multicentre retrospective cohort study of patients diagnosed with f-HP who underwent BAL and TBLC between 2011 and 2023.
View Article and Find Full Text PDFInfect Dis Ther
January 2025
Vaccine Research and Development, Pfizer R&D UK Ltd, Marlow, UK.
Introduction: Infants and young children typically have the highest age-related risk of invasive meningococcal disease. The immunogenicity and safety of a single primary dose and a booster of a meningococcal A/C/W/Y tetanus toxoid conjugate vaccine (MenACWY-TT; Nimenrix) in infants were evaluated.
Methods: In this phase 3b, open-label, single-arm study, healthy 3-month-old infants received a single Nimenrix dose followed by a booster at age 12 months (1 + 1 series).
J Nephrol
January 2025
Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, 20072, Milan, Italy.
Background: In an Italian cohort of lupus podocytopathy patients, we aimed to characterize the presenting features, therapy, and outcomes, and explore differences between relapsing and non-relapsing patients.
Methods: We identified 29 patients with lupus podocytopathy from 1994 to 2023 in 11 Italian Nephrology/Rheumatology Units, and divided them into two groups: relapsing and non-relapsing. Given the limited sample size, a p-value ≤ 0.
Eur J Pediatr
January 2025
Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.
Unlabelled: In very preterm-born infants, nutritional intake is important to reduce the risk of severe metabolic bone disease including the risk of a lower bone mineral density (BMD). The aim of this study was to evaluate bone mineral content (BMC) and BMD (measured as BMC per bone area (BA)) at six years of age in very preterm-born infants fed different diets post-discharge. Data on this topic so far is insufficient, and with this study we aim to supply more useful data.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!