The neo-aortic valve in patients with hypoplastic left heart syndrome is largely preserved: a serial follow-up CMR study.

Background: In hypoplastic left heart syndrome (HLHS) patients, neo-aortic valve regurgitation can negatively impact right ventricular (RV) function. We assessed neo-aortic valve function and RV volumetric parameters by analysing serial cardiovascular magnetic resonance (CMR) studies in HLHS patients after completion of total cavopulmonary connection (TCPC).

Methods: Consecutive CMR examinations of 80 patients (female: 22) with two ( = 80) or three ( = 45) examinations each were retrospectively analysed.

Granzyme K mediates IL-23-dependent inflammation and keratinocyte proliferation in psoriasis.

Psoriasis is an inflammatory disease with systemic manifestations that most commonly presents as itchy, erythematous, scaly plaques on extensor surfaces. Activation of the IL-23/IL-17 pro-inflammatory signaling pathway is a hallmark of psoriasis and its inhibition is key to clinical management. Granzyme K (GzmK) is an immune cell-secreted serine protease elevated in inflammatory and proliferative skin conditions.

Detection of hypoplastic left heart syndrome anatomy from cardiovascular magnetic resonance images using machine learning.

Objective: The prospect of being able to gain relevant information from cardiovascular magnetic resonance (CMR) image analysis automatically opens up new potential to assist the evaluating physician. For machine-learning-based classification of complex congenital heart disease, only few studies have used CMR.

Materials And Methods: This study presents a tailor-made neural network architecture for detection of 7 distinctive anatomic landmarks in CMR images of patients with hypoplastic left heart syndrome (HLHS) in Fontan circulation or healthy controls and demonstrates the potential of the spatial arrangement of the landmarks to identify HLHS.

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.

ISG15 deficiency is a rare disease caused by autosomal recessive variants in the gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways. Extracellularly, the ISG15 protein is essential for IFN-γ-dependent anti-mycobacterial immunity, while intracellularly, ISG15 is necessary for USP18-mediated downregulation of IFN-α/β signalling.