Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.

J Inherit Metab Dis

Department of Metabolic Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia.

Published: July 2023

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12621DOI Listing

Publication Analysis

Top Keywords

neonatal presentation
4
presentation occipital
4
occipital horn
4
horn syndrome
4
syndrome caused
4
caused atp7a
4
atp7a missense
4
missense variant
4
neonatal
1
occipital
1

Similar Publications

Aim: We review extensive results from two randomized controlled trials conducted over 9 years, comparing standard care (SC) in level-4 neonatal intensive care units (NICUs) with SC plus Family Nurture Intervention (FNI).

Methods: FNI included ~six weeks of facilitated mother-infant interactions aimed at achieving mother-infant 'autonomic emotional connection', a novel construct that describes the emotional mother-baby relationship at the level of the autonomic nervous system.

Results And Conclusion: Thus far, 18 peer-reviewed publications documented significant positive short-and long-term effects of FNI on infant neurobehavioral functioning, developmental trajectories and both mother and child autonomic health through five years.

View Article and Find Full Text PDF

Congenital intracranial hemangiomas are rare benign vascular tumors that develop before birth. Although various treatments, including surgery, steroids, interferon-α, thalidomide, bevacizumab, or propranolol, have been reported, no standard therapy has been established. We report the case of a neonate with congenital intracranial hemangioma and central nervous system symptoms requiring therapeutic intervention.

View Article and Find Full Text PDF

Background: Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for the patient's quality of life, it is difficult to address therapeutically. Due to bulbar dysfunction, maximum mouth opening (MMO) is suspected to be reduced in children with SMA.

View Article and Find Full Text PDF

Cell therapies as treatments for neonatal conditions have attracted significant research and parent interest over the last two decades. Mesenchymal stromal cells, umbilical cord blood cells and neural stem cells translate from lab, to preclinical and into clinical trials, with contributions being made from all over the world. Effective and timely translation involves frequent reflection and consultation from research-adjacent fields (i.

View Article and Find Full Text PDF

Preeclampsia (PE) is a major pregnancy-specific cardiovascular complication posing latent life-threatening risks to mothers and neonates. The contribution of immune dysregulation to PE is not fully understood, highlighting the need to explore molecular markers and their relationship with immune infiltration to potentially inform therapeutic strategies. We used bioinformatics tools to analyze gene expression data from the Gene Expression Omnibus (GEO) database using the GEOquery package in R.

View Article and Find Full Text PDF

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!