Rare Disease Advisor

Nearly Half of Patients With Mitochondrial Diseases May Have Migraines

Patients who experienced migraine had a higher frequency of abnormal electroencephalography findings than patients without ...
Rare Disease Advisor

Prolonged TG Elevation Linked to Greater Severity in HTG-Associated Acute Pancreatitis

Considering TG exposure, not just levels, may help clinicians assess the severity of HTG-linked acute pancreatitis, an FCS ...
Rare Disease Advisor

Systemic Mastocytosis Mimics Crohn Disease in 2-Patient Case Series

A 2-case series showed that SM can cause chronic gastrointestinal symptoms that may appear like Crohn disease or functional ...
Rare Disease Advisor

FDA Accepts NDA for Bezuclastinib in the Treatment of Advanced SM

The FDA has accepted a new drug application (NDA) for bezuclastinib, a novel tyrosine kinase inhibitor, in the treatment of ...
Rare Disease Advisor

Seralutinib New Drug Application Submitted to FDA for PAH

Gossamer Bio has submitted a New Drug Application to the FDA seeking approval of seralutinib for pulmonary arterial ...
Rare Disease Advisor

Hemodynamic Staging Helps Stratify Risk in ATTR-CM

A noninvasive hemodynamic staging system separates patients with ATTR-CM into distinct prognostic categories, according to a ...
Rare Disease Advisor

How My Mom’s MG Diagnosis Changed Our Relationship Forever

Upon her mother’s myasthenia gravis (MG) diagnosis, a daughter was catapulted into the roles of caregiver, translator, and ...
Rare Disease Advisor

AI Shows High Potential but Variable Accuracy in ATTR-CM Screening

Research shows AI applied to routine cardiovascular data could aid the detection of ATTR-CM, but diagnostic performance ...
Rare Disease Advisor

In FCS, LPL Deficiency May Drive Lower Lp(a) Levels Than Genetics Predict

The researchers attributed lower Lp(a) levels to “the class and metabolic processing of triglyceride-rich lipoproteins, ...
Rare Disease Advisor

Comorbid Extrahepatic Autoimmune Disease May Not Affect PBC Prognosis

Comorbid extrahepatic autoimmune disease does not appear to affect the prognosis or treatment response for patients with PBC.
Rare Disease Advisor

Tailored Allergy Strategies Support Safer Dental Care in Children With SM

Individualized prophylaxis and preparedness supported uneventful local anesthesia in 4 high-risk pediatric dental cases, ...
Rare Disease Advisor

AI Could Help Diagnose Lymph Node Metastasis in CCA

Radiomics driven by artificial intelligence (AI) could help diagnose lymph node metastasis in cholangiocarcinoma (CCA), according to a new study published in the International Jou ...