Latest News
New Trial Will Evaluate the Efficacy and Safety of NS-229 in EGPA
Noninvasive ETCOc Appears Feasible in Pregnancy at Risk for HDFN
Gaps Found in Routine Reproductive Healthcare in Young Adults with SCD
Bronchoscopy Beneficial at Onset of AAV in Patients With Respiratory Symptoms
New Study Will Evaluate Nipocalimab in Pregnancies at Risk for HDFN
Londrina Activities of Daily Living Protocol to Be Evaluated in Patients With IPF
Primary Care Plays Vital Role in SCD
Vascular Injury May Be Linked With Anemia in AAV
Study Confirms Cardiomyopathy as Leading Cause of Death in DMD
New Health-Related Issues Identified in Adults With DMD
Patients With NMOSD May Benefit from Mental Health Care
Report Highlights NMOSD Case of Double AQP4 and MOG Positivity
IPD Remains a Life-Threatening Risk in Children with SCD Despite Vaccines
Case Report: Successful Phototherapy in Neonate With HFDN
Thermostabilized Frataxin May Be a Protein Replacement Therapy for FA
Splenectomy Raises Levels of Circulating Microparticles in SCD
Anti-IL-17 Molecules a Beneficial Option for Treating Generalized Pustular Psoriasis
Changes in mTOR Signaling and NETosis May Influence GPA Development
Study Explores How Late-Stage FA May Impact the Heart
Latest Features
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Researchers Evaluate the Safety and Efficacy of Rituximab in Treating NMOSD
Researchers assess the safety and efficacy of rituximab in treating neuromyelitis optica spectrum disorder. -
Rise in Basal Serum Tryptase Levels: Possible Differentials for SM
“Increased basal serum tryptase level is an important diagnostic parameter and clinical biomarker in mast cell disorders,” Michael Arock, PharmD, PhD, wrote in Revue Francaise d’Allergologie, of which systemic mastocytosis (SM) is a subtype. Although an increased basal serum tryptase level is an important signpost to the possibility of SM, it can also point to… -
Mounting Evidence Suggests BRCA Mutations May Increase the Risk of CCA
BRCA mutations more commonly associated with breast and ovarian cancer may also be a risk factor in cholangiocarcinoma, researchers say. -
Assessing the Gray Areas in Our Understanding of ATTR-CM
Despite the wealth of information we now possess regarding transthyretin-mediated amyloid cardiomyopathy (ATTR-CM), certain gray areas remain, as touched on by Porcari and colleagues in Frontiers in Medicine. ATTR-CM is driven by the abnormal deposition of misfolded and/or cleaved transthyretin protein throughout the body and may be hereditary in nature or acquired. Diagnosing ATTR-CM has… -
Cholangiocarcinoma Gastric Metastasis May Resemble GIST
Researchers presented the case report of an individual with intrahepatic cholangiocarcinoma who developed gastric metastasis. -
Liver Transplantation in Liver Failure Associated With Wilson Disease
Liver transplantation may be necessary in patients with Wilson disease who have acute liver failure and hepatic encephalopathy. -
Research Explores the Role of Neuroinflammation and Glial Cells in FA
Here we address recent research supporting the role of neuroinflammation in the pathology of Friedreich ataxia (FA). -
Mereo BioPharma Plans Phase 3 Study of Alvelestat for Treatment of Severe AATD
Alpha-1 antitrypsin deficiency—a pulmonary disease far more common than cystic fibrosis—has not seen a new therapy in more than a decade. -
Multiple Clinical Trials Seek New Approach to Treating Prader-Willi Syndrome
Several investigational therapies are being evaluated for the treatment of Prader-Willi syndrome, a rare disease marked by persistent hyperphagia.
Latest Patient Perspectives
Why It’s Important for Patients With AATD to Ask Questions
Recently, I had a talk with another person who has alpha-1 antitrypsin deficiency (AATD) about things we wanted to know regarding our disease.
How to Feel Your Best When You Have CAD
When it comes to technical terms, CAD can be confusing, but in terms of how you feel—well, you’re the expert. And no one can tell you that you’re wrong.
Common Mistakes While Living With Pompe Disease
I don’t want to say we necessarily make mistakes living with Pompe disease, but we can tend to get comfortable and neglect essential things.
Fighting Against Depression With AATD Is Absolutely Necessary
Patients with AATD are more at risk for anxiety and depression, and I have written about anxiety before, but opening up about this is a little harder to do.
Rare Care Podcast
Browse Rare Disease Advisor’s engaging “Rare Care” podcast series, featuring interviews with leading researchers, stakeholders, and influencers within the rare disease community.
Latest HCP Insights
Using Smartphones to Track Disease Progression in Myasthenia Gravis
When the first smartphone was introduced a decade and a half ago, there was much excitement at its novelty and the new parameters of its function. Over the years, smartphones have become slowly integrated into daily life, with users depending on apps for entertainment, navigation, commerce, and telemedicine. In 2023, the smartphone era has truly…
The Role of Pulmonary Rehabilitation in Improving Clinical Outcomes
Pulmonary rehabilitation has been a core treatment for various pulmonary ailments such as cystic fibrosis, idiopathic pulmonary fibrosis (IPF), and chronic obstructive pulmonary disease (COPD) for decades. Pulmonary rehabilitation is a simple, noninvasive way to address a decline in lung performance. It can be performed in a home-based setting, reducing the patient burden in healthcare…
Researchers Explore the Prognosis of Patients With Thyroid Cancer
The medical community and the population it serves should be under no illusion of the poor prognosis of a patient with metastatic cancer; it is, unfortunately, more likely to result in early death than not. With this clear-eyed view of the limitations of medicine and the ruinous potential of an unwelcome diagnosis, we shall look…
Understanding the Impact of Generalized Pustular Psoriasis on Quality of Life
Dermatological diseases such as generalized pustular psoriasis (GPP) often result in considerable distress among patients due to their outward visibility. Such dermatological diseases burden the patient in two ways: the disease itself, which needs treating, and self-perception and self-esteem issues that can result in considerable psychiatric pathology. There is a dichotomy in medicine when it…
A Closer Look at the Relationship Between AAV and HIV
Medical literature has described the concurrent presence of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) and human immunodeficiency virus (HIV) infection in a single patient, although these cases are exceedingly rare. HIV care has undergone a revolution of sorts in recent decades, especially with the introduction of pre-exposure prophylaxis, which reduces the risk of HIV infection…
Adjusting to AATD Infusions
I have had infusions in the past to treat alpha-1 antitrypsin deficiency (AATD), stopped them, and started again due to insurance issues. Now, I one hundred percent know that infusions are necessary for my health, but I have also noticed that I am having a harder time adjusting to them. Looking back, I see that…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the Epidemiology of Friedreich Ataxia September 21, 2023
- Test Your Knowledge About the Genetics of Huntington Disease September 20, 2023
- Test Your Knowledge About the Complications of Hemophilia September 19, 2023
- Test Your Knowledge About Patient Education for Pompe Disease September 17, 2023
- Test Your Knowledge About the Clinical Features of Huntington Disease September 13, 2023
- Test Your Knowledge About the Care Team for Myasthenia Gravis September 8, 2023
- Test Your Knowledge About the Genetics of NMOSD September 8, 2023
- Test Your Knowledge About the Complications of AAV September 7, 2023
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