Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.

Background: Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neonatal presentation, such as characteristic facial anomalies with senile appearance, arthrogryposis, and campto-arachnodactyly, is fundamental for performing an early cardiological examination.

Occult Serious Bacterial Infections in Neonates and Infants Up to Three Months of Age with Bronchiolitis: Are Invasive Cultures Required?

(1) Background: The literature reports a low risk of serious bacterial infections (SBIs) in febrile infants presenting with bronchiolitis or respiratory syncytial virus infection, but current microbiological techniques have a higher accuracy. (2) Methods: We assessed the risk of SBIs in neonates and infants with bronchiolitis from 2021 to 2023. We also evaluated C-reactive protein, procalcitonin, and leukocyte values.

Role of Brain Elastography in the Neonatal Setting: State of the Art of Ultrasonographic Techniques and Future Perspectives.

Magnetic resonance imaging is currently used in the neonatal setting for assessing features of the neonatal brain. However, its utilization is constrained by logistic, technical, or clinical challenges. Brain elastography is a new research technique which enhances the diagnostic capability of traditional imaging, and can be paired with both ultrasonography and magnetic resonance imaging.

Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.

TBX4 gene, located on human chromosome 17q23.2, encodes for T-Box Transcription Factor 4, a transcription factor that belongs to the T-box gene family and it is involved in the regulation of some embryonic developmental processes, with a significant impact on respiratory and skeletal illnesses. Herein, we present the case of a female neonate with persistent pulmonary hypertension (PH) who underwent extracorporeal membrane oxygenation (ECMO) on the first day of life and then resulted to have a novel variant of the TBX4 gene identified by Next-Generation Sequencing.