Targeted disease-specific therapy should be considered in symptomatic patients with a confirmed diagnosis of post-orthotopic liver transplantation ATTR-CM. Many patients with hereditary ...

A prominent association was demonstrated between the lowest alpha-1 antitrypsin levels and asthma exacerbations. An analysis of DNA samples from individuals with severe asthma and a review of alpha-1 ...

Yiannis Papazoglou is one of only 40 people in the world with a mutation of the IRF2BPL gene. Foundation Aims to Help Patients With Rare Diseases—Even Before They’re Recognized The Undiagnosed ...

Bioinformatics analysis identified overlapping differentially expressed genes between eosinophilic asthma and EGPA, highlighting shared pathogenic mechanisms. Bioinformatics analysis revealed a ...

Close monitoring is vital for managing patients with SRH, a rare but significant complication of AAV. A 52-year-old man presented to the rheumatology department with a 2-week history of anorexia and ...

Sitting height and arm span are useful measurements for patients newly undergoing pharmacologic therapy for short stature, as these enable the monitoring of changes in body proportions. Accurate ...

Kidney transplantation has been shown to be safe and successful in the population of patients with AAV-associated glomerulonephritis and ESKD. Undergoing kidney transplantation is linked to ...

Over my 4 decades living with multiple sclerosis (MS), I’ve had dozens of magnetic resonance imaging (MRI) exams. Almost all of them were done using a contrast agent (often called a dye) containing ...

Can Do MS provides free in-person, virtual, and on-demand programs on topics such as nutrition, exercise, MS symptoms, relationships, and employment. Treatment for multiple sclerosis includes much ...

Patients with moderate SCD had a 3-fold higher likelihood of abnormal ECG results compared to those with mild disease. Patients with sickle cell disease (SCD), particularly those with severe cases, ...

I have never smoked, so I cannot say what it’s like. However, I do have alpha-1 antitrypsin deficiency (AATD), and I want to let other patients with AATD know what smoking could have in store for them ...

With only a week to go until Rare Disease Day 2025, the federal government has shut down its flagship Feb. 27-28, 2025, event in Washington, DC—sparking bewilderment and outrage from national ...