Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.
Clin Genet
December 2024
Univ. Lille, CHU Lille, ULR 7364 - RADEME, Lille, France.
Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.
View Article and Find Full Text PDFLong Term Ventilation in Pediatric Central Apnea: Etiologies and Therapeutic Approach over a Decade.
Pediatr Pulmonol
January 2025
Pediatric Pulmonology and Respiratory Intermediate Care Unit, Sleep and Long-Term Ventilation Unit, Academic Department of Pediatrics, Pediatric Hospital "Bambino Gesù" Research Institute, Rome, Italy.
Objective: This retrospective study aimed to analyze the clinical characteristics, ventilatory strategies, and effectiveness of ventilation in pediatric patients with central apneas treated at the Sleep Medicine and Long-Term Ventilation Unit of the Bambino Gesù Children's Hospital in Rome from 2012 to 2022.
Methods: Among all ventilated patients at our Center from January 2012 to December 2022, we retrospectively included children with a cAHI ≥ 1 events/h on baseline poly(somno)graphic study. Additional parameters assessed included the underlying disease, type of ventilation (non-invasive vs.
Intrathecal baclofen therapy as treatment for spasticity and dystonia: Review of cases in a pediatric palliative care unit.
Neurologia (Engl Ed)
October 2024
Unidad de Atención Integral Paliativa Pediátrica, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Article Synopsis
- The study focuses on pediatric patients with serious neurological conditions managed in the Pediatric Palliative Care Integral Unit, particularly those experiencing movement disorders where regular treatments fail.
- A retrospective review of clinical records from September 2012 to February 2021 identified the outcomes of intrathecal baclofen therapy (IBT) in 8 patients with various neurological issues, highlighting a significant improvement in muscle tone stabilization.
- The findings indicate that IBT not only benefits patients with non-progressive ailments like cerebral palsy but also those with progressive conditions, as all patients experienced a clinical stability period termed the "honeymoon" phase, which averaged 14.4 months.
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.
Cardiol Young
December 2024
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Article Synopsis
- * A case was presented involving a 21-year-old woman with several health issues, including bilateral glaucoma and radiculomegaly, confirmed through cone-beam CT scans.
- * Genetic testing identified a specific mutation related to OFCD syndrome, and further scans revealed an atrial septal defect that was surgically repaired, highlighting the critical role of diagnosing radiculomegaly for effective clinical management and cardiac evaluations.
Congenital heart disease: Epidemiological, genetic and evolutive profil.
Tunis Med
September 2024
Department of Pediatrics and Neonatology, Mongi Slim Hospital, La Marsa, Tunis, Tunisia. University of Tunis el Manar Faculty of Medicine of Tunis.
Introduction: Congenital heart disease is a heterogeneous group of malformations and one of the most common causes of mortality in children.
Aim: The aim of this study was to investigate the clinical, genetic and evolutive characteristics of congenital heart disease.
Methods: A retrospective, descriptive study was carried out between 2020 and 2023 at the pediatrics and neonatology department of Mongi Slim university hospital of Tunis.
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!