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http://dx.doi.org/10.1136/archdischild-2023-326267 | DOI Listing |
J Community Genet
January 2025
Red Nacional de Anomalías Congénitas (RENAC), Instituto Nacional de Epidemiología, ANLIS Malbrán, Buenos Aires, Argentina.
Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low).
View Article and Find Full Text PDFNeurol 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 PDFMinerva Urol Nephrol
December 2024
Department of Urology, IRCCS A. Gemelli University Polyclinic Foundation, Rome, Italy.
Background: The American Urologic Association (AUA) and the European Association of Urology (EAU) guidelines endorse percutaneous nephrolithotomy (PCNL) for symptomatic stones larger than 20 mm despite significant risks such as bleeding and urosepsis. Robotic pyelolithotomy (RPL) is emerging as an appealing alternative to PCNL, particularly for patients with anatomical variations like pelvic or horseshoe kidneys, malrotation, previous unsuccessful PCNL, and congenital renal anomalies such as ureteropelvic junction obstruction (UPJO).
Methods: A retrospective observational study was conducted involving patients from Miulli Hospital and A.
J Med Screen
January 2025
Department of Paediatrics, JSS Medical College, JSS Academy of Higher Education and Research, Mysore, India.
Objective: To determine the validity of a screening algorithm based on combination of clinical examination and pulse oximetry, for early detection of congenital heart disease (CHD) in term newborns. CHD is the most frequent major congenital anomaly, with prevalence of 6-12 per 1000 live births. Clinical examination alone may fail to detect CHD in more than 50% of affected newborns.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Paediatric Department, SJOG Midland Public Hospital, Midland, Western Australia, Australia.
Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma.
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