A cross-sectional survey of 41 parents of school-aged children and adolescents diagnosed with a rare disease completed an online questionnaire. Questions related to their perceptions of health-related stigma, bullying, social competencies and mental health difficulties faced by their child. Results ...
Some participants, especially those with more visible symptoms, felt shame about how they looked, acted, or communicated because of their rare disease. This sometimes was connected with lower self-esteem. Another theme that we noted was participants feeling the need to “pass” or be see...
How has rare disease care changed over the last few years? And what might we expect from the next five? We attended the Rare Disease Day Virtual Parliamentary Event to find out. The rare disease community has a golden opportunity to transform the way car
Symptoms of PH include shortness of breath, fainting, and chest pain. Now it has developed into a disease that seriously threatens human physical and mental health. Chen, a 52-year-old patient with PH, said that before he came to Cao's team for interventional treatment, he had been to m...
Scoping Review on Search Queries and Social Media for Disease Surveillance: A Chronology of Innovation The threat of a global pandemic posed by outbreaks of influenza H5N1 (1997) and Severe Acute Respiratory Syndrome (SARS, 2002), both diseases of zoonotic o... TM Bernardo,A Rajic,I Young,....
Objectives The BURQOL-RD project is intended to develop a disease based model capable of quantifying the socio-economic burden and Health-Related Quality of Life (HRQOL) for patients with rare diseases (RD) and their caregivers in Europe... Linertová, R.,López-Bastida, J.,Serrano-Aguilar,...
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based
This automated information curation paradigm will not only effectively empower development of the NIH Genetic and Rare Diseases Information Center (GARD), but also support the public health of the rare disease community.Introduction In the United States of America, a rare disease is defined as one ...
“It’s not one individual that’s wearing the PPE — it’s also the 10 or 15 people who interact with them. The idea is to form a cocoon to protect them,” saidRishi Desai, a pediatric infectious disease specialist. That has posed an additional challenge for families likeMary Wootten’...
摘要: Rare diseases have a prevalence of nearly 2% in the general population (source www. orphanet. org). To be considered rare, an individual disease should have a prevalence of less than 1 in 2,000 people. Of note, most of these diseases affect only a few people...