Latest News
Grant Awarded to Targeted Genome Editing Therapeutic Strategy
Some Vascular Problems Can Affect Survival After Pediatric Liver Transplantation
Prognosis of Pediatric PAH Can Be Predicted With Echocardiography
Engraftment of SM Bone Marrow Cells in Mice Models Aids Prognosis
Dysautonomic Symptoms May Affect Quality of Life in NMOSD
Study Suggests a New Metric to Predict Disease Severity in Patients With FA
New Study Will Assess Safety and Efficacy of R-CMOP for DLBCL
Possible Approval of First DMD Gene Therapy Creates Buzz at MDA Conference
Chemotherapeutic Regimen May Be Useful in DLBCL Care
Study Evaluates Use of Immune Tolerance Induction and Bypassing Agents
Gene Transfer Shows Promising Results for DMD
Levatinib May Be a Potential Treatment for CCA
Laparoscopic Hepatectomy May Be Effective in CCA Care
New Study Will Investigate Efficacy of Pegcetacoplan in Patients With PNH
Diagnosis and Management of Small Bowel GIST Remains a Challenge
New Clinical Trial to Evaluate 18F-Fluoride PET Imaging in Cardiac hATTR
Inotersen Effective in Slowing Neuropathic Progression in hATTR
Case Report: 71-Year-Old Woman With Refractory Hemolytic Anemia
Long-Term Effects of ERT on Cardiac Function in Patients With Pompe Disease Explored
Latest Features
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Rare Case of MS Followed By NMOSD Reported
A 57-year-old female with stable multiple sclerosis suddenly presented with symptoms of neuromyelitis optica spectrum disorder. -
Cardiac Abnormalities Sporadically Reported in Patients With WD
Wilson disease is characterized by the abnormal buildup of cooper in the body, resulting primarily in hepatic and neurological symptoms. Nevertheless, the long-term pathological accumulation of copper can affect various systems in the body, including the cardiac system. There is general consensus that the clinical effects of prolonged copper accumulation in the body is poorly… -
The Role of Platelets in Immune Function and ITP Explored
Recent research has further elucidated the role that platelets play in regulating immune function and promoting homeostasis. -
How NMOSD May Impact Pregnancy and Fertility
Studies have attempted to shed light on the risk factors associated with a pregnancy-related NMOSD attack. -
Wilson Disease May Be Linked With Cardiac Dysfunction
Researchers report that Wilson disease can result in significant cardiac abnormalities, requiring close follow-up. -
How the COVID-19 Pandemic Affected PAH Management and Research
When the COVID-19 pandemic broke out in 2020, the virus spread like wildfire, furious and by no means a respecter of persons. Major European cities imposed the strictest lockdowns in living memory, beginning in Italy then spreading across the continent. Collective panic descended on the world and businesses were shuttered. Many cities around the world… -
Italian Hematologist Urges End to ‘Useless’ Restrictive Diets After Stem Cell Transplants
Hematologist Federico Stella, MD, says restrictive diets for patients in the hospital recovering from stem cell transplants are unnecessary. -
Second-Line Management of DLBCL Explored
For patients with diffuse large B-cell lymphoma who fail first-line therapy, a few second-line options remain. -
The Challenge of Diagnosing Acquired Hemophilia A in Adults
Hemophilia A is characterized by abnormally low factor VIII (FVIII) activity; common symptoms include bleeding in various parts of the body, such as the joints and the muscles. While hemophilia is typically diagnosed in childhood, acquired hemophilia A (AHA) is more commonly diagnosed in adults. As its name suggests, this condition is acquired rather than congenital.…
Latest Patient Perspectives
Trial and Error in Managing My Son’s ALGS and Chronic Itching
After months of dealing with my son’s uncontrollable itch from Alagille syndrome (ALGS), we finally found a solution.
A ‘Cold’ Experiment That Has This CAD Patient Thinking
Since I was diagnosed with CAD, I have wondered what would happen if I was in an emergency situation.
When ITP Entered and Changed My Life
My diagnosis of a rare blood disease, immune thrombocytopenia (ITP), was made in November 2019.
Managing ALGS in My Family: Anxiety and Uncertainty, Test After Test
Recently my daughter who was diagnosed with ALGS at the age of 3 underwent her first baseline brain scan.
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
The Increasing Importance of Patient-Reported Outcomes
During the opening ceremony of the 2012 Olympic Games in London, England, there was a curious segment that baffled many overseas viewers: performers cheerfully forming the initials “NHS.” “NHS” stands for the National Health Service—the national network of healthcare services in the UK that is free at the point of delivery. Some have commented that…
Understanding and Detecting the Tricky Presentation of Hereditary Angioedema
In a paper published in Seminars in Thrombosis and Hemostasis, Petersen and colleagues presented a typical case study of a patient eventually diagnosed with hereditary angioedema. A 21-year-old woman presented to the emergency department with acute throat swelling. She described having recurrent episodes of swelling in her extremities that typically resolved spontaneously within 3 days.…
Challenges Presented by Comorbidities and Complications in Sickle Cell Disease
The lethal sting of many rare and chronic illnesses is the myriad of comorbidities and complications they produce in a given patient. Sickle cell disease (SCD) is a well-studied, well-understood disease in which the sickling of erythrocytes results in an inadequate supply of oxygen to meet physiological demands in the body. In the United States,…
The Importance of LCFAOD Treatment Compliance Explored
Primary carnitine deficiency, a form of long chain fatty acid oxidation disorder, paralyzes the ability of carnitine to be transported across plasma membranes into cells. The resulting picture is the pathological decrease of intracellular carnitine concentrations, impairing mitochondrial fatty acid oxidation. In recent decades, our understanding of primary carnitine deficiency has improved by leaps and…
Evaluating the Off-Label Use of Omalizumab in Systemic Mastocytosis
In the Italian Journal of Pediatrics, Bossi and colleagues reported the case of a pediatric patient with systemic mastocytosis (SM) who was successfully treated with omalizumab, adding to a growing body of evidence on the use of the asthma medication in treating SM. An 8-year-old boy presented with what appeared to be an anaphylactic episode.…
Aggressive Afterload Lowering as a Strategy to Improve PAH Outcomes
Despite improvements in our understanding of the pathophysiology of pulmonary arterial hypertension (PAH), it remains a disease of significant morbidity and mortality. PAH is characterized by dyspnea/fatigue, a common presentation among patients with heart failure. A diagnosis of PAH can only be made when other cardiac/pulmonary causes of increased pulmonary arterial pressure have been ruled…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About Testing For Hereditary Angioedema March 20, 2023
- Test Your Knowledge About the Pathophysiology of MTC March 17, 2023
- Test Your Knowledge About the Comorbidities of Wilson Disease March 16, 2023
- Test Your Knowledge About the Complications of AATD March 16, 2023
- Test Your Knowledge about the Diagnosis of PNH March 8, 2023
- Test Your Knowledge About the Comorbidities of NMOSD March 8, 2023
- Test Your Knowledge About the Complications of IPF March 6, 2023
- Test Your Knowledge About Experimental Therapies for MTC March 6, 2023
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