ERN GUARD-Heart

Incidence, prevalence, and ketoacidosis at onset of type 1 diabetes in Spain: a systematic review and critical assessment of the available evidence

The incidence, prevalence and onset of type 1 diabetes (T1D) with diabetic ketoacidosis (DKA) in Spain remain insufficiently characterized, despite multiple regional analyses. This study aims to summarize and critically assess epidemiologic data in Spain, incorporating insights f...

The Dutch cardiomyopathy registry (DCR); rationale and registry design

BACKGROUND: Cardiomyopathies are important causes of arrhythmias, sudden cardiac death, and heart failure. With accumulating knowledge in clinical, genetic, and molecular phenotyping, the number of distinct disease entities is growing. There is a need for broad, inclusive, high-q...

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation

Heterozygous carboxyl-terminal variants in the RHO guanosine triphosphatase (GTPase) CDC42 are known to cause severe autoinflammatory syndromes. Here, we identified a heterozygous amino-terminal p.T43I (Thr 43 →Ile) CDC42 variant in patients with autoinflammation and uncovered a...