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Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review.
Congenit Anom (Kyoto)
January 2025
Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Yokohama, Japan.
Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with non-mosaic X chromosome structural rearrangements.
View Article and Find Full Text PDFTranscatheter Embolization in Congenital Cardiovascular Malformations-Variable Use of Vascular Plugs.
Cardiovasc Ther
January 2025
Department of Pediatric Cardiology Saarland University Medical Center, Homburg 66421, Germany.
The objective of this study is to evaluate the clinical application and primary outcome of transcatheter embolization using Amplatzer™ Vascular Plug (AVP) Type 2 and Type 4 in different congenital cardiovascular malformations. This is a single-center retrospective observational cohort study. We analyzed clinical and imaging data of 36 patients retrospectively who received transcatheter embolizations of the following malformations using AVP: systemic-to-pulmonary collateral arteries (SPCA), patent ductus arteriosus (PDA), ventricular septal defects (VSD), and aberrant pulmonary sequestration arteries (PSA).
View Article and Find Full Text PDFAssessment of Brain Development in Children With Congenital Diaphragmatic Hernia - an Automated Brain Segmentation Approach.
In Vivo
December 2024
Department of Neuroradiology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Background/aim: Congenital diaphragmatic hernia (CDH) is a critical condition affecting newborns, which often results in long-term morbidities, including neurodevelopmental delays, which affect cognitive, motor, and behavioral functions. These delays are believed to stem from prenatal and postnatal factors, such as impaired lung development and chronic hypoxia, which disrupt normal brain growth. Understanding the underlying mechanisms of these neurodevelopmental impairments is crucial for improving prognosis and patient outcomes, particularly as advances in treatments like ECMO have increased survival rates but also pose additional risks for neurodevelopment.
View Article and Find Full Text PDFTwo Unusual Facial Clefts in a Preterm Neonate.
Neoreviews
January 2025
Department of Neonatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India.
On TRacK With Larotrectinib in a Neonate With a Giant Congenital ETV6::NTRK3 Fusion-Positive Infantile Fibrosarcoma of the Head and Neck.
Head Neck
December 2024
Department of Pediatric Hematology & Oncology, Klinik für Kinder- Und Jugendmedizin, Universitätsmedizin Rostock, Rostock, Germany.
Background: Infantile fibrosarcoma (IFS) is a rare pediatric tumor of intermediate malignancy with high local aggressiveness that typically presents in young infants. Its occurrence in the head and neck region is rare. Complete non-mutilating surgical resection is often not possible, requiring multimodal treatment.
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