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http://dx.doi.org/10.1056/NEJM196606092742309 | DOI Listing |
Kardiol Pol
January 2025
Department of Pediatric Cardiology and Congenital Heart Defects, Faculty of Medicine, Medical University of Gdansk, Gdańsk, Poland.
J Med Case Rep
January 2025
Faculty of Medicine, Damascus University, Damascus, Syria.
Background: Heterotaxia is characterized by an abnormal positioning of the thoracic and/or abdominal organs, resulting in various physiological and hemodynamic implications. Congenital heart disease involves structural irregularities in the heart or major vessels within the chest, leading to functional challenges.
Case Presentation: We present a 26-year-old Arab female patient with a complex medical history involving heterotaxy, dextrocardia, congenital heart disease, and ureteropelvic junction obstruction diagnosed in her first year of life, followed by the identification of endometriosis in her early twenties.
Spec Care Dentist
January 2025
Department of Prosthetic Dental Sciences, College of Dentistry, Qassim University, Qassim, Saudi Arabia.
Aims: To evaluate the impact of anthropometric and sociodemographic factors on dental caries and gingival health among children with special healthcare needs (SHCN).
Methods And Results: This cross-sectional study involved 108 children, aged 4-14 years, with congenital heart disease, childhood cancer, bleeding disorders, various syndromes, and multiple conditions. Caregivers completed a sociodemographic questionnaire, and children underwent dental examinations to assess caries, gingival health, and oral hygiene.
Neurol Sci
January 2025
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul, 135-720, Korea.
This study presents the first reported case of a Korean patient with Alpha-1,3-Mannosyltransferase-Congenital Disorder of Glycosylation (ALG3-CDG), characterized by a novel maternally inherited missense mutation and a previously reported paternally inherited nonsense mutation. The patient exhibited typical ALG3-CDG manifestations, including developmental delays, epilepsy, and multisystem involvement, alongside a diagnosis of Lennox-Gastaut Syndrome (LGS). Cannabidiol therapy, combined with dietary management, led to seizure freedom for over 13 months, significant EEG improvement, and enhanced developmental outcomes.
View Article and Find Full Text PDFAnn Pediatr Cardiol
December 2024
Department of Pediatric Cardiology, Star Hospitals, Hyderabad, Telangana, India.
Coronary sinus (CS) defects are rare congenital cardiac anomalies that occur in isolation or with other congenital heart diseases. Persistent left superior vena cava (LSVC) is a relatively common entity that usually drains into the CS, is of no hemodynamic consequence, and is easily diagnosed on echocardiography by a dilated CS and an antegrade flow toward the heart. However, a combination of LSVC and CS defect may reverse its flow direction and CS dilation may be absent.
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