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 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 ...

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 ...

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 ...

Variations in HCP clinical alignment with international guidelines could be due to insufficient real-world supporting evidence. Health care providers (HCPs) were mostly aware of the published ...

There were significant associations between different antibodies and the results of optical coherence tomography in patients with anti-AQP4 antibody-positive NMOSD. Rheumatoid-related antibodies may ...

The injection of IgG from patients with NMOSD in the vitreous cavity of mice led to the upregulation of complement C3 expression in the retinal Müller cells and the activation of the microglia. The ...

Non-MND patients with moderate to high levels of impairment were lonelier, more anxious, and depressed. The COVID-19 pandemic had a greater effect on the mental health of patients with chronic ...