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This study aims to demonstrate the effect of gamma knife radiosurgery (GKRS) on symptoms, hemorrhage rates, and histopathological changes in patients with cavernous malformations (CMs), regardless of whether the symptomatic lesions are hemorrhagic. This single-center retrospective study evaluated symptomatic patients with single CMs treated with GKRS between 2016 and 2023. The patients' demographic data, presenting symptoms, GKRS radiation dose, complications developed during follow-up (hemorrhage, radiotoxicity), the rate of symptom improvement, and histopathological changes of surgically removed CMs were recorded.

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European central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.

Eur J Pediatr

January 2025

Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.

Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.

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Berlin Heart EXCOR sVAD implantation technique for neonates and infants with functionally univentricular ductal-dependent systemic circulation.

Multimed Man Cardiothorac Surg

January 2025

Congenital Heart Center, Division of Cardiovascular Surgery, Department of Surgery, University of Florida, Gainesville, FL, USA.

The Berlin Heart EXCOR is a pulsatile paracorporeal ventricular assist device (VAD) for neonates, infants, children and adults with congenital or acquired severe ventricular dysfunction. Berlin Heart EXCOR VADs are routinely used as either a bridge to a cardiac transplantation, or occasionally as a bridge to ventricular recovery. Our programmatic philosophy is to bridge neonates and infants with functionally univentricular ductal-dependent systemic circulation or functionally univentricular ductal-dependent pulmonary circulation who are at high risk for staged palliation because of important cardiac risk factors with a single-ventricle VAD (sVAD) as a bridge to a cardiac transplant.

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Background: Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular psoriasis variant refractory to many conventional treatments. The eruption typically occurs after local trauma or infection; other etiologies include neural, inflammatory, and genetic causes. Herein we reported a single case of a 64-year-old patient with ACH that was successfully treated with spesolimab for 19 weeks.

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Increased cardiac macrophages in -deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities.

Front Genet

January 2025

Pediatric Translational Medicine Institute and Pediatric Congenital Heart Disease Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Macrophages are known to support cardiac development and homeostasis, contributing to tissue remodeling and repair in the adult heart. However, it remains unclear whether embryonic macrophages also respond to abnormalities in the developing heart. Previously, we reported that the structural protein Sorbs2 promotes the development of the second heart field, with its deficiency resulting in atrial septal defects (ASD).

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