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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 PDFExploring the Association Between Third Molar Agenesis and Carabelli Traits: A Cross-Sectional Study.
Dent J (Basel)
January 2025
Department of Orthodontics, University Hospital Bonn, Medical Faculty, University of Bonn, 53111 Bonn, Germany.
Dental agenesis is the congenital absence of at least one tooth and has been associated with several other developmental dental conditions, such as morphological dental alterations and Carabelli trait. This study sought to investigate whether third molar agenesis is associated with Carabelli traits in permanent molars. : This was a cross-sectional study that used a convenience sample obtained from the orthodontic records of German patients.
View Article and Find Full Text PDFCase Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.
Front Genet
January 2025
Human Genetics Department, School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Background: Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.
Methods: We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA).
Novel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
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.
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