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Anesthetic management using desflurane and nitrous oxide in a child with non-ketotic hyperglycinemia: a case report.
JA Clin Rep
December 2024
Department of Anesthesiology, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-Dori, Chuo-Ku, Niigata, 951-8520, Japan.
Background: Non-ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder caused by defects in the glycine cleavage system, leading to elevated glycine levels in the central nervous system. NKH manifests in various forms, with the neonatal type being the most severe and often associated with high mortality and significant neurological impairment. This case report highlights the successful uses of desflurane and nitrous oxide for anesthetic management in a patient with NKH.
View Article and Find Full Text PDFChildhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.
Neurol Sci
December 2024
Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Introduction: Biallelic variants in QARS1, a house-keeping gene involved in protein synthesis, cause a rare encephalopathy classically characterized by severe developmental delay, drug-resistant neonatal-onset epilepsy, microcephaly, and brain atrophy. We aim to raise awareness on mild QARS1-related phenotypes describing a 6-year-old patient.
Case Description: Epilepsy onset occurred at 3.
Point-of-Care Ultrasound in the Expedient Identification and Management of Hydropneumothorax Secondary to Necrotizing Pneumonia.
Pediatr Emerg Care
December 2024
From the Division of Emergency Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh PA.
We report the use of point-of-care ultrasound to identify a hydropneumothorax in a 6-year-old previously healthy girl arriving at the emergency department in severe respiratory distress. The use of point-of-care ultrasound in this instance allowed for the expedient management and stabilization of the hydropneumothorax with emergent thoracentesis. The patient was ultimately found to have Streptococcus pyogenes bacteremia and necrotizing pneumonia.
View Article and Find Full Text PDFOcular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.
BMC Ophthalmol
December 2024
Department of Ophthalmology, Daegu catholic university school of medicine, Daegu, Korea.
Background: Baraitser-Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS.
Case Presentation: A 6-year-old female patient visited our clinic complaining of low vision.
Case series report: Equine coronavirus in Australia.
Aust Vet J
December 2024
School of Animal and Veterinary Sciences, University of Adelaide, Roseworthy, South Australia, Australia.
Background: Equine Coronavirus (ECoV) can cause gastrointestinal disease and was first described in 2000 in the USA followed by several international outbreak case reports. Disease manifestation is characterised by vague clinical signs, including mild pyrexia, lethargy and anorexia. Morbidity ranges greatly from 10% to 83%.
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