Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jpeds.2023.02.011 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.
Mol Cell Pediatr
January 2025
Division of Metabolism and Children`s Research Center, University Children's Hospital Zurich, Lenggstr. 30, 8008, Zurich, Switzerland.
Background: Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a defect in the creatine transporter (CRTR), which is essential for uptake of creatine as important energy source into the target cells. Patients with CCDD can present with a variety of unspecific symptoms: global developmental delay, speech-language disorder, behavioral abnormalities and seizures. Early treatment initiation is essential in AGAT and GAMT deficiencies to achieve a favorable outcome.
View Article and Find Full Text PDFMiddle ear ventilation tubes and water precautions: A survey of otolaryngologists and pediatricians on their recommendations.
Arch Argent Pediatr
January 2025
Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.
Introduction. Middle-ear ventilation tubes are commonly placed in pediatric patients because of the high frequency of otitis media. Although avoidance of water activity has been recommended to prevent otorrhea, studies indicate that exposure to water does not increase these episodes.
View Article and Find Full Text PDFPhysician perspectives on communication quality in pediatric care.
Pediatr Res
November 2024
Division of Newborn Medicine, Department of Pediatrics, the Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Background: We aimed to explore physician perspectives on communication quality across pediatric contexts.
Methods: We conducted semi-structured interviews over a 4-month period. Purposive sampling was conducted to ensure a broad sampling of pediatricians from multiple subspecialties and practice settings.
Integrating Emotional Health Assessments into Pediatric Care: Initial Learnings from an MOC Part 4 Activity.
Pediatr Qual Saf
September 2024
American Board of Pediatrics, Chapel Hill, NC (CML as Senior Quality Advisor).
Introduction: Living with a chronic condition often impacts the emotional health of children. Pediatricians frequently feel unprepared to address these concerns. The American Board of Pediatrics Roadmap Project aims to support these clinicians.
View Article and Find Full Text PDFBarriers to initiating and implementing palliative and end-of-life care for children with life-limiting conditions: a mixed-methods study in a UK children's hospital.
Arch Dis Child
September 2024
Paediatric Bioethics Centre, Great Ormond Street Hospital for Children NHS Trust, London, UK
Background: To ensure that children with life-limiting conditions (LLC) and their families have access to a palliative care pathway from diagnosis to death and bereavement, a better understanding of the challenges experienced by paediatric healthcare professionals caring for children with LLC is needed.
Aim: To explore the barriers paediatricians face in initiating and implementing palliative and end-of-life care for children with LLC.
Methods: Due to the challenges of COVID-19, the study was performed as a service evaluation using semi-structured interviews and an online questionnaire with consultant paediatricians in general paediatrics, community paediatrics and multiple subspecialties at a UK children's hospital between December 2020 and August 2021.
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!