Rare Diseases
Conference Coverage
Germline testing in advanced cancer can lead to targeted treatment
In a study of nearly 12,000 cancer patients, 7%-9% of patients had targetable germline alterations.
News
Two rare neurologic conditions linked to COVID-19
Two variants of Guillain-Barré syndrome—Miller Fisher syndrome and polyneuritis cranialis—have been linked with COVID-19 infection.
News
Want to keep cancer patients and providers safe during the pandemic? Here’s how
Prescreening, telemedicine, and limited interventions top the list of best practices for patients, while PPE, telecommuting, and wellness/stress...
News
First case of COVID-19 presenting as Guillain-Barré reported
A case report from China suggests a possible association between GBS and SARS-CoV-2 infection.
Article
Presentation of a Rare Malignancy: Leiomyosarcoma of the Prostate
Prostatic leiomyosarcoma is an aggressive malignancy with a high risk of metastasis and a poor prognosis that poses unique diagnostic and...
Case Reports
Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain
Although commonly detected early in life, alkaptonuria, a rare congenital metabolic disorder, can be challenging to diagnosis and treat in older...
Conference Coverage
ADA2 is a potent new biomarker for macrophage activation syndrome
ATLANTA – The hope, first author Dr. Pui Y. Lee said, is that the finding will lead to quicker recognition and treatment of MAS.
Conference Coverage
Tofacitinib improves disease activity in patients with polyarticular-course JIA
ATLANTA – The phase 3 trial looked at flare rate out to 44 weeks after patients first met response criteria following 18 weeks of open-label...
Conference Coverage
Study delineates spectrum of Dravet syndrome phenotypes
BALTIMORE – Presentations often differ subtly from the prototypical phenotype.
Conference Coverage
Efficacy of postvenetoclax therapy may depend on prior agent exposure in CLL
ORLANDO – The multicenter study was aimed at addressing the knowledge gap around what therapy to use after venetoclax.