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Case Series of Anesthetic Management of Gene Therapy in Children With Aromatic L-Amino Acid Decarboxylase Deficiency.
Paediatr Anaesth
January 2025
Department of Anaesthesiology, Adolphe de Rothschild Foundation Hospital, Paris, France.
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare life-threatening inborn error of neurotransmitter biosynthesis. It is characterized by deficient biosynthesis of neurotransmitters dopamine and serotonin, leading to catecholamines deficiency and sympathetic deprivation, while the parasympathetic system remains functional. Since 2012, gene therapy has led to clinical improvements in symptoms and motor function with a severe phenotype.
View Article and Find Full Text PDFFixed dosing of alpelisib for children with vascular anomalies: Can we do better?
Br J Clin Pharmacol
January 2025
Vascular Anomaly Team, Sainte-Justine University Hospital, Université de Montréal, Canada.
Severe forms of vascular malformations (VM) can highly impact patients' quality of life and lead to life-threatening organ dysfunction. Numerous VM are caused by somatic activating mutations in the PI3K/AKT/mTOR signalling pathway. Alpelisib, a PIK3CA inhibitor was recently FDA-approved for paediatric PIK3CA-related overgrowth syndrome (PROS).
View Article and Find Full Text PDFSnake Venom Pharmacokinetics and Acute Toxic Outcomes Following Envenoming: Experimental and Clinical Correlations.
Toxins (Basel)
December 2024
Department of Pharmacology, Phramongkutklao College of Medicine, Bangkok 10400, Thailand.
An understanding of snake venom pharmacokinetics is essential for determining clinical outcomes of envenoming and developing therapeutic approaches to the treatment of envenoming, especially regarding the timing and optimal dosage of antivenom administration. (Eastern Russell's viper) envenoming causes systemic coagulopathy and severe hemorrhage including acute kidney injury. These toxic outcomes can be diminished by the administration of high quantities of Russell's viper antivenom.
View Article and Find Full Text PDFSafety, Immunogenicity, and Efficacy of Cytomegalovirus Vaccines: A Systematic Review of Randomized Controlled Trials.
Vaccines (Basel)
January 2025
Department of Biomedical Sciences and Public Health, Section of Hygiene, Preventive Medicine and Public Health, Polytechnic University of the Marche Region, 60126 Ancona, Italy.
Cytomegalovirus (CMV) is widespread and mostly causes asymptomatic infections in immunocompetent hosts, but it may lead to severe and life-threatening diseases in immunocompromised individuals, such as transplant patients and congenitally infected children, representing a significant public health concern. Although there are no licensed CMV vaccines, the development of a CMV vaccine is considered a high priority due to its potential to reduce the burden associated with CMV-related complications, and several approaches are under investigation. The objective of this systematic review was to synthesize the evidence on various CMV vaccines currently under clinical development.
View Article and Find Full Text PDFShunt Dependency Syndrome Combined with Sinus Stenosis after Cyst-peritoneal Shunting of Arachnoid Cyst: A 20-year Rare Complication.
NMC Case Rep J
December 2024
Department of Neurology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Shunt dependence syndrome is a serious long-term complication characterized by symptoms and signs of increased intracranial pressure with normal-sized lateral ventricles after several years of arachnoid cyst-peritoneal shunting. It is easy to misdiagnose and overlook when combined with sinus stenosis, thus delaying treatment. Here, we present a 35-year-old man with an unexplained headache and binocular horizontal diplopia with high intracranial pressure.
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