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Vestn Otorinolaringol
December 2024
Sverzhevsky Research Clinical Institute of Otorhinolaryngology, Moscow, Russia.
Arteriovenous malformation (AVM, arteriovenous dysplasia) is one of the variants of congenital vascular defects formed as a result of a defect in the development of the arterial and venous systems during ontogenesis with the formation of direct messages between vessels of different diameters. In this regard, high-speed shunting of blood from the arterial part of the vascular system to the venous through fistulas of various calibers occurs. This disease is characterized by a variety of clinical manifestations.
View Article and Find Full Text PDFInt J Neonatal Screen
December 2024
Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.
Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.
View Article and Find Full Text PDFJ Pers Med
December 2024
Radiological Sciences Section, Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, AOUP "Paolo Giaccone", Via del Vespro 129, 90127 Palermo, Italy.
Nasal and paranasal sinus masses can arise from a wide range of conditions, both benign and malignant, as well as congenital or acquired. Diagnosing these masses is often challenging, requiring a combination of nasal endoscopy, imaging studies, and histopathological analysis. Initial imaging frequently involves computed tomography or cone beam computed tomography (CBCT) to evaluate the bony anatomy of the nasal cavity and surrounding sinuses, while magnetic resonance imaging (MRI) is typically used for detailed assessment of soft tissues and to aid in differential diagnosis when the findings are inconclusive.
View Article and Find Full Text PDFCongenit Anom (Kyoto)
December 2024
Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico.
Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case-control study was conducted among 1232 newborns, including 308 patients with isolated CHDs (cases) and 924 infants without birth defects (controls), born all during the period 2009-2023 at the Hospital Civil de Guadalajara "Dr. Juan I.
View Article and Find Full Text PDFFront Cardiovasc Med
December 2024
Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Bicuspid aortic valve (BAV), the most common congenital cardiac anomaly, predisposes individuals to aortic stenosis and regurgitation due to valve degeneration. Abnormal hemodynamics, arterial wall characteristics, and genetic factors contribute to ascending aorta dilatation, potentially leading to severe complications like aortic dissection. Presently, the most recent guidelines propose that individuals with BAV requiring valve replacement due to valve dysfunction should undergo simultaneous replacement of the ascending aorta when the diameter of aortic dilatation exceeds 4.
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