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American Heart Association Scientific Sessions

The American Heart Association 2024 Scientific Sessions are taking place at McCormick Place Convention Center in Chicago from Nov. 16 to 18, 2024. The three-day conference highlights the latest innovations in cardiovascular science for researchers, clinicians, and other health care professionals. Topics range from new guidelines for treating a host of cardiovascular diseases to new and emerging therapies and innovative risk-reduction strategies, including the use of injectable weight loss medications to improve heart health.

Above, we summarize some presentations that caught our eye at the conference. We will follow this up with a postconference wrap-up report. Stay tuned.

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SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient - PubMed

SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient - PubMed

Source : https://pubmed.ncbi.nlm.nih.gov/38805916/

Congenital disorders of glycosylation (CDG) are a group of rare, often multi-systemic genetic disorders that result from disturbed protein and lipid glycosylation. SSR4-CDG is an ultra-rare, comparably mild subtype of...

SSR4-CDG is a rare genetic disorder causing developmental delays, intellectual disability, hypotonia, and distinct facial features. It requires genetic diagnosis, with management focusing on symptomatic care, especially for behavioral issues.

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A case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review - PubMed

A case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review - PubMed

Source : https://pubmed.ncbi.nlm.nih.gov/38077387/

Our findings suggest that anti-GAD65 antibody-positive autoimmune encephalitis patients may concurrently present with other APS. Our unique case presented with multiple endocrine syndromes and represents the first reported occurrence in...

This case report presents the first pediatric instance of anti-GAD65-positive autoimmune encephalitis associated with autoimmune polyendocrine syndrome (APS) type II, highlighting early diagnosis, immunotherapy, and favorable outcomes.

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