Hunter syndrome is one of a heterogeneous group of recessively inherited mucopolysaccharide storage diseases (MPS) with similar biochemical defects manifested by impairments in mucopolysaccharide catabolism with variable but progressive clinical courses. Abnormal accumulation and deposition of mucopolysaccharides in the tissue of several organs to numerous anatomical, musculoskeletal and neurological abnormalities which are known to complicate anaesthetic and airway management. Hunter syndrome has a wide variance of clinical phenotypes ranging from mild to severe. We present a patient having physical and neurological features consistent with a severe clinical presentation of Hunter syndrome (MPS, Type II). Following a seemingly uneventful intraoperative anaesthetic course including isoflurane, nitrous oxide and fentanyl (0.93 microgram.kg-1), resumption of spontaneous ventilation and return to consciousness were delayed until intravenous naloxone (200 micrograms) was administered 110 min after the opioid administration. The cause of delayed recovery from anaesthesia in this patient is unknown.
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http://dx.doi.org/10.1007/BF03009866 | DOI Listing |
Mol Genet Metab
January 2025
Division of Medical Genetics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada. Electronic address:
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked lysosomal storage disorder. It results from a deficiency of the enzyme iduronate-2-sulfatase (I2S), leading to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. Clinical manifestations include skeletal abnormalities, facial coarsening, organ enlargement, and developmental delays.
View Article and Find Full Text PDFAnn Intensive Care
January 2025
School of Medicine and Psychology, Australian National University, Canberra, Australia.
Background: There is scarce literature evaluating long term psychological or Quality of Life (QoL) outcomes in family members of ICU survivors, who have not experienced invasive ventilation. The objective was to compare long-term psychological symptoms and QoL outcomes in family members of intubated versus non-intubated ICU survivors and to evaluate dyadic relationships between paired family members and survivors.
Methods: Prospective, multicentre cohort study among four medical-surgical ICUs in Australia.
Clin Epigenetics
January 2025
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, 2308, Australia.
Background: Hypomethylating agents (HMA), such as azacytidine (AZA) and decitabine (DAC), are epigenetic therapies used to treat some patients with acute myeloid leukaemia (AML) and myelodysplastic syndrome. HMAs act in a replication-dependent manner to remove DNA methylation from the genome. However, AML cells targeted by HMA therapy are often quiescent within the bone marrow, where oxygen levels are low.
View Article and Find Full Text PDFHeart
January 2025
Westmead Applied Research Centre, The University of Sydney, Westmead, New South Wales, Australia.
Background: Coronary heart disease (CHD) remains a leading cause of mortality and disability worldwide. Approximately half of the patients who have had a prior hospital admission for CHD will have a recurrent coronary event, with the majority of these occurring within 12 months. Despite well-established evidence-based therapies, medication non-adherence is highly prevalent and reasons for medication non-adherence are poorly understood.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!