Recently, I heard that someone I have known for a long time got a rare form of cancer and is currently recovering from surgery to remove it. My grandmother passed away in December, and another family ...
After a decade of searching for an answer to what was causing progressive pain and weakness in my body, I was finally diagnosed with Pompe disease. Pompe, a rare genetic disorder, has long presented a ...
Which of the statements below about the study on the impact of the COVID-19 pandemic on the mental health of patients with chronic inflammatory demyelinating polyneuropathy (CIDP) are correct? Select ...
Which of the statements below about the genetics of chronic lymphocytic leukemia (CLL) are correct? Select one of the options for each question, then submit your answers to see how well you scored and ...
Friedreich ataxia (FA) is a constant challenge. I know that. My loved ones know that. My doctors know that too. But many others realize the extent of what it’s like beyond the surface. In college, I ...
Longitudinal multidisciplinary care models are essential, given the high surgical burden, chronic nature of pain, and functional limitations of individuals with achondroplasia. Achondroplasia, the ...
The present study did not find genetic evidence of a causal association between PBC and pregnancy outcomes, which is consistent with the findings of several previous studies. Genetically predicted ...
Collaboration between clinicians and caregivers is a key component to supporting effective use of the CGI-I Non-seizure Symptoms measure. The CGI-I Nonseizure Symptoms measure was developed to be ...
I was recently put into an uncomfortable situation regarding my immune thrombocytopenia (ITP). I was on a trip with a group of women I had never met before when autoimmune diseases came up in the ...
The new mouse line was treated with avapritinib, a tyrosine kinase inhibitor that is approved for the treatment of SM in humans. A new inducible transgenic mouse model has been developed that has the ...
Immunostaining for 4-hydroxy-2-nonenal highlighted oxidative stress in neutrophils within pustules, emphasizing its potential role in GPP pathogenesis. Serum diacron-reactive oxygen metabolite (d-ROM) ...
Art Still is a former defensive end for the Kansas City Chiefs and an NFL Hall of Famer. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Art Still, former defensive end for the ...