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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 PDFClassification and treatment approach of chemical burn associated Limbal stem cell deficiency: based on novel global consensus.
Int Ophthalmol
January 2025
Department of Ophthalmology, Ege University Medical Faculty Hospital, Ege University, 35100, Bornova, Izmir, Turkey.
Purpose: To evaluate the severity distribution of chemical burn-induced Limbal stem cell deficiency (LSCD) according to the novel global consensus classification and to compare the treatment approach, before and after the global consensus.
Methods: Medical records of 127 eyes of 109 patients with LSCD were included. LSCD stages were categorized according to the global consensus classification published by "International LSCD Working Group".
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFForensic pathology standards in China: a 30-year retrospective study.
Int J Legal Med
January 2025
Institute of Forensic Science, Ministry of Public Security, Beijing, 100038, China.
China's forensic pathology standardization has accumulated more than 30 years of experience, but there is limited research summarizing the features and detailed information concerning these standards. In this paper, we collected documents on forensic pathology standards and statistically analyzed their types, effective scopes, drafting units, authorization departments, promulgation times, revision cycles, and other information. All of the standards information was obtained from standardization websites and databases.
View Article and Find Full Text PDFThe Transformative Power of Embodied Behaviour: Influencing Tourists' Experience in the Guangzhou Marathon as a Mass Participant Sports Event.
Behav Sci (Basel)
January 2025
Department of Tourism Management, South China University of Technology, Guangzhou 510006, China.
Mass-participation sports events (MPSEs) are of significant value to the fields of sports, culture, and tourism. MPSEs have witnessed a remarkable surge in popularity, which has led to a complex interplay of factors influencing participants' overall experience, making it crucial to understand the role of embodied behaviour. However, the existing literature is deficient in terms of providing substantial evidence, particularly with regard to the growing significance of experience planning as a core aspect of event design.
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