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Extracorporeal membrane therapy in a case of ruptured abscess on the mitroaortic intervalvular fibrosa associated to multisystem inflammatory syndrome: a case report.
Egypt Heart J
January 2025
Intensivista Pediátrico, Fundación Clínica Infantil Club Noel, Cali, Colombia.
Background: The mitroaortic intervalvular fibrosa is an avascular structure near the left ventricular outflow tract, between the mitral and aortic valves. Mitroaortic intervalvular fibrosa complications, such as tamponade, hemopericardium, and abscesses, are rare and often diagnosed postmortem. On the other hand, the COVID-19 pandemic notably impacted pediatric patients with congenital heart diseases, who frequently presented cardiac complications including arrhythmias, elevated troponins, myocarditis, and heart failure.
View Article and Find Full Text PDFPhenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Am J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFLife-threatening spontaneous splenic rupture in congenital afibrinogenemia: Two case reports and systematic literature review.
J Forensic Leg Med
January 2025
Department of Legal Medicine, Teaching Hospital of Taher Sfar, 5100, Mahdia, Tunisia; Faculty of Medicine of Monastir, University of Monastir, Tunisia.
Background: Spontaneous splenic rupture is a rare life-threatening finding with a challenging diagnosis which is largely ignored in the literature. Hematological disorders such as afibrinogenemia are reported to cause bleeding disorders mostly cerebral hemorrhage. Despite being a life-threatening condition, data about spontaneous splenic rupture in patients with Afibrinogenemia remain scarce.
View Article and Find Full Text PDFCentral or Peripheral Venoarterial Extracorporeal Membrane Oxygenation for Pediatric Sepsis: Outcomes Comparison in the Extracorporeal Life Support Organization Dataset, 2000-2021.
Pediatr Crit Care Med
January 2025
Department of Pediatrics, Division of Pediatric Critical Care, Vanderbilt University Medical Center, Nashville, TN.
Objectives: Small studies of extracorporeal membrane oxygenation (ECMO) support for children with refractory septic shock (RSS) suggest that high-flow (≥ 150 mL/kg/min) venoarterial ECMO and a central cannulation strategy may be associated with lower odds of mortality. We therefore aimed to examine a large, international dataset of venoarterial ECMO patients for pediatric sepsis to identify outcomes associated with flow and cannulation site.
Design: Retrospective analysis of the Extracorporeal Life Support Organization (ELSO) database from January 1, 2000, to December 31, 2021.
Scala tympani drill-out technique for oval window atresia with malformed facial nerve:update.
Acta Otolaryngol
January 2025
Department of Otomicrosurgery, Sixth Medical Center of The PLA General Hospital, Beijing, China.
Background: In some rare cases of congenital aplasia of the oval window (OW), malformed facial nerve (FN) locations covering the most or entire OW present a challenge to hearing reconstruction, there is no a highly effective surgical hearing reconstruction methods.
Aims/objectives: To update a Scala tympani drill-out technique (SDT) for abnormal FN course covering the OW.
Material And Methods: All patients of congenital atresia of the OW was recruited between August 2014 and July 2023 in a tertiary-care center.
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