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http://dx.doi.org/10.1093/ehjci/jeu149 | DOI Listing |
Eur J Hum Genet
January 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
View Article and Find Full Text PDFRev Port Cardiol
January 2025
Cardiology Department, Hospital Santa Cruz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.
Introduction And Objectives: Pulmonary vein (PV) isolation is one of the cornerstones of rhythm-control therapy for symptomatic atrial fibrillation (AF) patients. Pulsed field ablation (PFA) is a novel ablation modality that involves the application of electrical pulses causing cellular death, and it has preferential tissue specificity. In this study, we aimed to share a one-year single center experience of AF ablation with PFA.
View Article and Find Full Text PDFActa Bioeng Biomech
September 2024
Laboratory of Physiotherapy and Physioprevention, Institute of Physiotherapy and Health Sciences, Academy of Physical Education, Katowice, Poland.
: The main aim of this paper was to perform the morphological assessment of children's mandibles of different etiology of dys-functions within the temporomandibular joint, from isolated idiopathic ankylosis to craniofacial malformations co-existing with genetic disorders. : The investigations encompassed seven patients at the age of 0-3. Measurements were conducted on the basis of data obtained from computed tomography.
View Article and Find Full Text PDFPacing Clin Electrophysiol
January 2025
Department of Cardiology, Saitama Medical University, International Medical Center, Hidaka, Saitama, Japan.
Background: The IntellaNav MiFi OI catheter (MiFi) is equipped with a sensor for local impedance (LI) monitoring and three mini-electrodes. In this study, we investigated the target LI values for a successful pulmonary vein isolation (PVI) under the pacing and ablation technique using the MiFi catheter.
Methods: Twenty-seven patients underwent PVI using the MiFi catheter under mini electrode pacing from the MiFi catheter.
Pheochromocytoma (PHEO) currently is considered to be malignant due to metastatic potential. One of the most common familial forms of PHEO is multiple endocrine neoplasia syndrome (MEN) type 2. The penetrance of PHEO in MEN2 syndrome is up to 50% of cases.
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