Syndrome
Vascular Ehlers-Danlos Syndrome, Part 1
Dive into vascular Ehlers-Danlos syndrome. What is it? How does it present? Get clues to its diagnosis and learn more about collagen than you ever wanted to know.
Luspatercept-aamt shows benefit for transfusion-dependent myelodysplastic syndrome
Luspatercept-aamt improved red blood cell transfusion independence with a concurrent hemoglobin increase among certain patients with myelodysplastic syndrome, according to the agent’s manufacturer.
Ketamine may be effective in treating children with ADNP syndrome
Low-dose ketamine was generally safe, well-tolerated and effective in treating clinical symptoms in a small group of children with activity-dependent neuroprotective protein syndrome, researchers reported.
Q&A: AAP’s new guidance on patients with Down syndrome
The AAP recently updated its guidance for pediatricians and families affected by a diagnosis of Down syndrome in a clinical report published in Pediatrics.
Gene therapy deemed safe, effective for children with Wiskott-Aldrich syndrome
Gene therapy appeared safe and effective for children with Wiskott-Aldrich syndrome without a suitable donor for hematopoietic stem cell transplantation, according to a study published in Nature Medicine.
VIDEO: What’s in a name? How tears of the esophagus became known as Boerhaave syndrome
In this Endo-Sketch, a Healio video series on clinical conditions named after famous colleagues, Klaus Mergener, MD, of the University of Washington School of Medicine, discusses the origin of Boerhaave syndrome.
Zaki syndrome: Researchers identify unknown childhood genetic disorder
BLOG: Help prevent vision loss from keratoconus in patients with Down syndrome
Keratoconus, like many ocular diseases, has genetic, systemic and environmental associations that affect prevalence.
Reconsidering, retiring the controversial ‘lupus headache’
SAN DIEGO — Although “lupus headache” remains a disease-related entity in the Systemic Lupus Erythematosus Disease Activity Index, debate persists over the lack of a detailed definition for this type of headache and whether it represents a neuropsychiatric symptom of lupus, according to a presentation at the 2019 Congress of Clinical Rheumatology West.
Sotos’ syndrome may be associated with optic disc pallor and retinal atrophy
TOKYO — Sotos’ syndrome, an extremely rare genetic disorder characterized by excessive growth before and after birth, may be associated with optic disc pallor and retinal atrophy. A case report of a 22-year-old Japanese man who was diagnosed with Sotos’ syndrome at age 3 recently appeared in the American Journal of Ophthalmology.