Publications by authors named "David Dredge"
Introduction: Given the challenges in diagnosing children with long COVID, we sought to explore diagnostic practices and preferences among clinicians.
Methods: A ten-question survey assessed pediatric providers' clinical decision making for identifying and evaluating long COVID in children. Of the 120 survey respondents, 84 (70%) were physicians, 31 (26%) nurse practitioners, and 5 (4%) physician assistants.
Article Synopsis
- Pathogenic variants in KMT5B, a lysine methyltransferase, are linked to global developmental issues, macrocephaly, autism, and other congenital anomalies, but the disorder is still not fully understood.
- A study examining 43 patients revealed new significant features like hypotonia and congenital heart defects not previously associated with this condition.
- Research using patient cell lines and KMT5B knockout mice showed that these variants lead to slow growth and highlighted alterations in pathways related to nervous system development, enhancing our understanding of the disorder's molecular mechanisms.
Article Synopsis
- Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is an iron-containing non-heme oxygenase linked to various neurological disorders in 34 individuals from 25 families with biallelic HPDL variants.
- These neurological disorders presented as conditions ranging from juvenile-onset spastic paraplegia to infantile-onset spasticity, often accompanied by severe developmental delays and respiratory issues.
- Experiments showed that HPDL is expressed in the nervous system, plays a role in motor function in zebrafish models, and its variants disrupt enzymatic function, suggesting a causative link between HPDL mutations and neurological diseases.
Anticonvulsant hypersensitivity syndrome is a severe, potentially life-threatening, reaction to the aromatic anticonvulsant medications. Reported here is a case of anticonvulsant hypersensitivity syndrome secondary to phenobarbital in a 2-year-old boy; he responded to drug withdrawal, corticosteroids, and intravenous immunoglobulin. The literature regarding treatment of this syndrome is reviewed.
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