Rare Diseases
Latest News
Lipedema: Current Diagnostic and Treatment Evidence
The lack of clarity about causes of lipedema directly affects the effectiveness of diagnoses and treatments.
From the Journals
Sex-Related Differences Found in IgG4-Related Disease Epidemiology
A recent study highlighted sex-based differences in manifestations of IgG4-related disease.
Latest News
PIK3CA-Related Overgrowth Spectrum (PROS): 5 Things to Know
Comprehensive and regular monitoring is essential to address the diverse and evolving clinical manifestations of PROS.
Latest News
When Should a Pediatrician Suspect a Rare Disease?
“Patients with rare diseases have common symptoms. What needs to be done is to prioritize those symptoms that behave abnormally, that have an...
Latest News
National Rapid Genome Testing Program Benefits NICU Care
Rapid trio genome sequencing diagnosed 50% of the neonates with disease-causing genetic variants.
Conference Coverage
Triple therapy boosts anaplastic thyroid cancer survival
"The very long median overall survival in the study's neoadjuvant group is quite remarkable for a group of patients who used to have a very poor...
News from the FDA/CDC
FDA okays first-ever new drug for rare bone disorder
The drug reduced annualized heterotopic ossification volume by 54%.
Latest News
In new era of gene therapy, PCPs are ‘boots on the ground’
Pediatricians and general practitioners will be central to finding and monitoring the patients that need these treatments.
From the Journals
Could love hormone help psychological symptoms in AVD?
“The findings ... pave the way to intervention studies assessing the effect of intranasal oxytocin in patients with [AVD] and better clinical care...
Conference Coverage
Noninvasive skin test may aid in Cushing diagnosis
“After proper validation, it could help clinicians in cases which may not be straightforward and could serve as an additional” instrument in the...
Feature
Doctors urge screening for autoimmune disorders for patients with celiac disease
At least in some cases, people with one autoimmune disorder should be tested for others, celiac disease specialists say.