Rare Diseases
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.
From the Journals
Goodbye ‘diabetes insipidus’, hello ‘AVP-D’ and ‘AVP-R’
Confusion with the term ‘diabetes mellitus’ ... has spurred proposed name change by an international panel representing major endocrinology...
News
The broad and challenging – but promising – landscape of peripheral neuropathy
This review of peripheral neuropathy summarizes the more common causative entities, diagnostic tools, and treatments to prevent, slow, or reverse...
News
NORD Rare Disease Centers of Excellence: A new network seeks to break down barriers in rare disease care
“The goal was to find places that could help with unanswered questions, whether diagnostic questions or treatment questions.”
Latest News
With sleuth work, pediatricians can identify genetic disorders
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient...
News
FDA approves setmelanotide for obesity in Bardet-Biedl syndrome
The FDA cleared setmelanotide (Imcivree) for people age 6 and older with obesity due to a rare genetic disorder.
Latest News
Early puberty cases among girls surged during pandemic
Doctors have tied the current uptick to the stress of the pandemic and lockdowns, including reduced physical activity and increased consumption of...
Commentary
Growth hormone therapy for certain children may help them reach their potential
When should parents consider growth hormone therapy? In what cases is it warranted for children? Dr. Jessica Sparks Lilley discusses the need for...
Latest News
Lipedema: A potentially devastating, often unrecognized disease
“If patients with lipedema gain weight, the problem becomes even worse,” Dr. C. William Hanke said.