Recent identification of four additional polyaminopathies, including Bachmann-Bupp syndrome, have benefited from previous research on Snyder-Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment within this pathway, and for other possible unidentified polyaminopathies, the International Center for Polyamine Disorders (ICPD) was created to help promote understanding of these conditions, research opportunities, and appropriate care for families. This case study provides insights from two new patients diagnosed with Bachmann-Bupp syndrome, further expanding our understanding of this ultra-rare condition, as well as a general discussion about other known polyaminopathies.
View Article and Find Full Text PDFInfant botulism (IB) is an intestinal toxemia that manifests as descending paralysis, constipation, and, in some cases, respiratory failure. Laboratory-confirmed IB cases are rare, and recent data in Israel are lacking. We conducted a national multicenter retrospective study of laboratory-confirmed IB cases reported in Israel during 2007-2021.
View Article and Find Full Text PDFThe use of point of care ultrasound to assess cardiovascular function performed by a neonatologist who is not a cardiologist, is gaining interest in the neonatal intensive care unit (NICU). Clinical signs such as heart rate, blood pressure and capillary refill time provide limited insight into the adequacy of systemic blood flow and organ perfusion. Functional echocardiography (echo) enables real time evaluation of cardiac performance, identifying the nature of cardiovascular compromise, guiding therapeutic decisions and monitoring response to treatment.
View Article and Find Full Text PDFObjectives: We report an international experience of transfemoral transcatheter aortic valve replacement (TAVR) using the self-expanding Acurate neo valve (Boston Scientific) in aortic regurgitation.
Methods: This series comprises 20 patients with pure aortic regurgitation undergoing transfemoral TAVR with the Acurate neo prosthesis at nine centers in Europe and Israel.
Results: Mean age was 79 ± 8 years and mean STS score was 8.