Rare Disease

NCCN Publishes Guidelines for Deadly Pediatric CNS Tumors

August 4th 2022, 8:55pm


The recommendations follow the World Health Organization’s recent update to its classifications of central nervous system (CNS) tumors to now include a structure for pediatric patients with CNS tumors.

Large-scale Studies Needed to Guide Newborn Screening for Rare Diseases

August 2nd 2022, 11:06am


Despite the known potential benefits of newborn screening, the exact long-term clinical benefits and cost-effectiveness in large cohorts remain uncertain due to a lack of large-scale longitudinal research.

GVHD May Mimic Eosinophilic GI Disorders Following Bone Marrow Transplant

July 30th 2022, 2:31pm


After years of dependence on systemic corticosteroids, ruxolitinib treatment was effective for an adolescent patient with graft-versus-host disease (GVHD) who was initially thought to have eosinophilic gastroenteritis.

Bacteria Behind Rare Disease Melioidosis Found in US for First Time

July 27th 2022, 10:24pm


For the first time, the CDC has identified in Mississippi dirt and water samples a bacteria that causes a rare and sometimes fatal disease called melioidosis, which is common in low-income tropical countries and one that scientists have been warning about for several years.

Disease Duration, Treatment Intensity Linked With Lower QOL in Urticarial Vasculitis

July 23rd 2022, 8:00pm


A recent survey of patients with urticarial vasculitis found that quality-of-life (QOL) impairment is an important factor to consider when putting disease management plans in place.

Inflammatory Cytokine Profiles Are Similar in MDS and Unexplained Cytopenias, Study Suggests

July 21st 2022, 12:30pm


Clonal cytopenias of undetermined significance often manifest prior to myelodysplastic syndromes (MDS), and a recent study found similarities in the cytokine profiles of the distinct conditions.

Doublet Therapy Shows Improved Outcomes vs Azacytidine Alone in MDS

July 15th 2022, 12:10pm


The combination regimen delivered better overall survival and response rates among patients with myelodysplastic syndromes (MDS).

Hypomethylating Agents Can Produce Long Remission of MPNs but May Contribute to Morbidity, Mortality

July 4th 2022, 7:00pm


Hypomethylating agents are a widely used treatment option in acute myeloid leukemia secondary to myeloproliferative neoplasms (MPNs), but careful monitoring of thromboembolic risk is needed for optimal outcomes.

Assessing Longitudinal Trends in Essential Thrombocythemia, Polycythemia Vera Blood Counts

July 2nd 2022, 11:00pm


A recent study identified trends in blood counts, but did not find statistically significant associations between achieving hematological remission and clinical outcomes in polycythemia vera (PV) or essential thrombocythemia (ET).

Swedish Study Identifies MIS Risk Factors Among Pediatric Patients

July 2nd 2022, 11:03am


Multisystem inflammatory syndrome (MIS) in children is a rare condition known to be associated with COVID-19, but more research is needed to identify at-risk patients and guide public health interventions.