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Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.
Mol Cell Pediatr
January 2025
Division of Metabolism and Children`s Research Center, University Children's Hospital Zurich, Lenggstr. 30, 8008, Zurich, Switzerland.
Background: Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a defect in the creatine transporter (CRTR), which is essential for uptake of creatine as important energy source into the target cells. Patients with CCDD can present with a variety of unspecific symptoms: global developmental delay, speech-language disorder, behavioral abnormalities and seizures. Early treatment initiation is essential in AGAT and GAMT deficiencies to achieve a favorable outcome.
View Article and Find Full Text PDFTime Is a Tool: Evaluation of a Prolonged Casualty Care Curriculum With a Focus on Temporal Fidelity.
Mil Med
January 2025
Department of Military and Emergency Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Introduction: In current and anticipated future conflicts, including large-scale combat operations, medical teams are tasked to provide prolonged casualty care (PCC) or extended patient care that occurs when delays in evacuation exceed the team's capabilities. Although the principles of PCC are often taught to military medical providers using simulation, educators rarely dedicate the time to training required to simulate the prolonged nature of these encounters. Therefore, a lack of knowledge exists regarding which aspects of extended care may be lost in an accelerated training scenario.
View Article and Find Full Text PDFDelayed Stevens-Johnson syndrome induced by combined administration of carbamazepine and botulinum toxin: A case report.
Medicine (Baltimore)
January 2025
Department of Rehabilitation Medicine, Hebei General Hospital, Shijiazhuang, Hebei, China.
Rationale: Steven-Johnson syndrome (SJS) is characterized by severe illness, rapid progression, and high mortality rates, with the vast majority of cases induced by medications. Botulinum toxin, a neurotoxin produced by Clostridium botulinum, has not been reported in the literature as a causative agent of SJS.
Patient Concerns: A 56-year-old male patient, who underwent surgery for cerebral hemorrhage, developed widespread patchy annular papules following the injection of botulinum toxin into the masseter muscle.
Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.
Medicine (Baltimore)
January 2025
The Reproductive Medicine Centre, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.
Rationale: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy.
View Article and Find Full Text PDFThe COVID-19 pandemic and Urology - reflecting on successful initiatives and lessons in Australia.
BJU Int
January 2025
Department of Urology, Austin Health, Heidelberg, Victoria, Australia.
Objectives: To summarise the impact of the coronavirus disease 2019 (COVID-19) pandemic on urological practice globally with a focus on Australian initiatives, as the pandemic resulted in radical changes in healthcare infrastructure and policies.
Methods: We conducted a literature review of the Medical Literature Analysis and Retrieval System Online (MEDLINE), Excerpta Medica dataBASE (EMBASE) and Web of Science medical databases. The key terms used to conduct our search algorithm comprised of 'COVID', 'wait list or wait time or delay', 'urology', 'surgery' and 'outcomes', and generated 231 articles.
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