As the skin is a highly visible and easily accessible organ, it often functions as the medium for the pathological communication of psychological distress, as in DA. Because children with DA commonly present to paediatricians, awareness of DA is essential. Typically, skin lesions associated with ...
In the future, stratified therapy for rare paediatric disease based on the specific genetic diagnosis is likely to be possible, and effective and affordable therapies are likely to become available through drug repurposing and innovation.Abstract The majority of rare diseases affect children, most of ...
Analysis of the CSF is an important tool of the diagnostic work-up in AGS as it reveals specific abnormalities: lymphocytosis (> 5–100 cells/mm3) and raised INF-α levels (> 2 UI/ml) in the absence of other signs of infectious processes, which is the specific marker of the disease [...
PATTERNS of misuse were not found amongst children with sickle cell disease who were prescribed opioids, according to recent research. Angela Snyder, Georgia State University, Atlanta, USA, commented: “Because of the opioid epidemic, it’s important to make sure that people understand that when ...
The problems do not end there. As there is no "disease name" during the time taken to be diagnosed as a rare disease, it is difficult for patients to receive financial support for diagnosis and treatment. “More than 50 percent of doctors who see rare childhood diseases are in the greater...
”As we approach Rare Disease Day 2025, I urge you to join me in raising awareness about Turner syndrome and other rare conditions. Let us work together to amplify the voices of those with rare diseases and ensure that they have access to the care and support they need to thrive.’ Read...
In China, about 5.6 percent of children are born with a congenital deformity, that is 1 million newborn babies each year. Prenatal deformities and rare diseases have seriously affected children’s health and overall population quality. Prevention is the key to avoid deformity and rare disease. A...
Rare diseases research and policy in Australia: on the journey to equitable care. J Paediatr Child Health. 2021;57:778–81. Article PubMed Google Scholar Government of Western Australia. New rare care centre will coordinate rare disease care at Perth Children’s Hospital. https://www.cahs....
Anemerging infectious disease(EID) is a contagious disease whose occurrence has boosted in the last 50 years and chances are there that it could increase in the coming future. Emerging infections account for at least 15% of all human pathogens. EIDs are caused by freshly identified strains that...
(BFLS),aneurodevelopmental disorderlinked to the X chromosome that's characterized by seizures, intellectual disability, and behavioral disturbances. Children born with this devastating disease typically also exhibit physical symptoms, including distinctive facial features and growth defects, such as tapered...