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2 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
In patients with immunoglobulin G4-related disease (IgG4-RD), monitoring the re-elevation of serum IgG4 levels has the potential to predict relapses with respect to long-term management of serologically active clinically quiescent (SACQ) disease. A single-center study was conducted at Peking Union Medical College Hospital, Beijing, China, based on a prospective cohort study (NCT01670695) of individuals with IgG4-RD. The findings were published recently in Clinical Rheumatology.
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2 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
The Mayo Alliance Prognostic Score (MAPS) for survival prediction in patients with systemic mastocytosis (SM) has demonstrated superior performance to the 5th edition of the World Health Organization (WHO5), with little additional contribution from mutations. In addition, subclassification of SM by the International Consensus Classification (ICC) has been shown to be prognostically independent of MAPS and more valuable than classification according to the WHO5.
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3 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
In patients with immunoglobulin G4-related disease (IgG4-RD), serum IgG4 levels alone are not an adequate screening tool for diagnosis of the disorder because of their low positive predictive value (PPV), according to findings from a single-center, retrospective study conducted in Spain and published recently in Reumatología Clínica.
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3 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
The cardiovascular safety profile of acalabrutinib is superior to that of chemoimmunotherapy in treating patients with chronic lymphocytic leukemia (CLL), according to findings from a retrospective cohort analysis presented at the 2025 American Society of Clinical Oncology (ASCO) Annual Meeting in Chicago, Illinois. Of the study participants, 847 were treated with acalabrutinib and 3172 received chemoimmunotherapy.
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4 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
The use of romiplostim as an alternative therapeutic option in the neonatal intensive care unit (NICU) in an effort to avoid multiple platelet transfusions, has proved successful in patients with disorders such as fetal and neonatal alloimmune thrombocytopenia (FNAIT). Findings from 3 case studies of romiplostim-treated neonates with thrombocytopenia were reported recently in Pediatric Blood & Cancer.
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5 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
Among patients with Gaucher disease (GD) in France, improved knowledge about the disorder has been associated with more rapid, less invasive diagnoses, along with reassuring outcomes among those with type 1 GD, a relatively low incidence of Parkinson’s disease and malignancies, and decreased rates of mortality. A retrospective, multicentric study was conducted by the French Gaucher Disease Registry (FGDR), in an effort to provide updated epidemiological data on GD in France.
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5 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
In a cohort of Canadians with type 1 Gaucher disease (GD), using bone marrow burden (BMB) scores demonstrated a limited association with patient disease characteristics, with no differences observed over time regarding treatment, according to findings from a retrospective study published in Blood Cells, Molecules and Diseases. The researchers of the current analysis reported BMB scores among adult patients with type 1 GD from Ontario and Québec, Canada, who were followed for up to 6 years.
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6 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
In patients with eosinophilic granulomatosis with polyangiitis (EGPA)—a type of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV)—who have a suboptimal response to targeted anti-IL5/5R therapy, treatment with the monoclonal antibody tezepelumab has been suggested as an option, according to findings from a small retrospective case report study published recently in Chest.
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1 week ago | 
rarediseaseadvisor.com | Sheila Jacobs
Improved patient understanding of the recommendation for Rhesus D immunoglobulin (RhDIg) prophylaxis for the prevention of hemolytic disease of the fetus and newborn (HDFN) can prove beneficial, according to findings from a review article published recently in Obstetrical and Gynecological Survey. Even though uncertainty continues to exist in certain clinical scenarios, RhDIg prophylaxis is critical for the prevention of RhD alloimmunization, which is known to occur in HDFN.
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1 week ago | 
rarediseaseadvisor.com | Sheila Jacobs
Individuals with systemic mastocytosis (SM) and cutaneous mastocytosis (CM) are at an increased risk for developing skin cancer, according to findings from a large-scale, retrospective, propensity score-matched cohort study published recently in the Journal of the American Academy of Dermatology. All study participants with SM or CM were matched in a 1:1 ratio with controls, according to sex, age, family history of skin cancer, and skin disease.
