Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1542/neo.22-12-e854 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
ESR Essentials: imaging of common paediatric pulmonary diseases-practice recommendations by the European Society of Paediatric Radiology.
Eur Radiol
January 2025
Departments of Radiology and Nuclear Medicine, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.
Chest imaging in children presents unique challenges due to varying requirements across age groups. For chest radiographs, achieving optimal images often involves careful positioning and immobilisation techniques. Antero-posterior projections are easier to obtain in younger children, while lateral decubitus radiographs are sometimes used when expiratory images are difficult to obtain and for free air exclusion.
View Article and Find Full Text PDFSimpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFSequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFCosts and characteristics of admissions due to ambulatory care-sensitive conditions in children under one year of age in São Paulo, Brazil.
Cien Saude Colet
January 2025
Departamento de Odontologia Social, Faculdade de Odontologia de Piracicaba, Universidade Estadual de Campinas. Campinas SP Brasil.
This research aimed to estimate the direct costs and analyze the epidemiological aspects of ambulatory care-sensitive conditions (ACSC) in children under one year of age, São Paulo municipality, 2011-2022. Total and average costs were calculated according to ACSC diagnosis groups by components (early neonatal, late neonatal, and post-neonatal). The trend in ACSC rates was analyzed using Prais-Winsten generalized linear regression.
View Article and Find Full Text PDFTemporal trends of the incidence rate of syphilis during pregnancy and congenital syphilis in São Paulo, Brazil, 2011-2023.
Epidemiol Serv Saude
January 2025
Universidade Federal de São Paulo, Departamento de Enfermagem na Saúde da Mulher, São Paulo, SP, Brasil.
Objective: To analyze trends of syphilis during pregnancy and congenital syphilis, based on reported cases in São Paulo, Brazil, from 2011 to 2023.
Methods: Ecological time series study, based on data from Notifiable Health Conditions Information System records. The Prais-Winsten method was used to verify trends.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!