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Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFTuberculosis Preventive Treatment in High TB-Burden Settings: A State-of-the-Art Review.
Drugs
December 2024
The Aurum Institute, Parktown, South Africa.
Tuberculosis (TB) is the leading cause of death from a single infectious agent. The burden is highest in some low- and middle-income countries. One-quarter of the world's population is estimated to have been infected with TB, which is the seedbed for progressing from TB infection to the deadly and contagious disease itself.
View Article and Find Full Text PDFAntenatal detection of pediatric surgical congenital abnormalities and its effect on maternal anxiety: a multicentre prospective study in a middle-income country.
Pediatr Surg Int
December 2024
Division of Paediatric & Neonatal Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Background: In middle-income countries, healthcare systems face unique challenges in ensuring timely antenatal detection of congenital abnormalities that require pediatric surgical intervention. Early detection can significantly improve outcomes, yet resource constraints often limit access to diagnostic technologies. This study evaluates the antenatal detection rate of congenital abnormalities referred to pediatric surgical services in three Malaysian tertiary centers and examines its effect on maternal anxiety.
View Article and Find Full Text PDFImpact of hospital-related indicators on healthcare-associated infections and appropriateness of antimicrobial use according to a national dataset.
Sci Rep
December 2024
Department of Public Health Sciences and Paediatrics, University of Turin, Turin, Italy.
Healthcare-associated infections (HAIs) represent a major threat in Europe. Infection prevention and control (IPC) measures are crucial to lower their occurrence, as well as antimicrobial stewardship to ensure appropriate use of antibiotics. Starting from Italian national data, this study aimed at: (i) describing IPC indicators, prevalence of HAIs, antimicrobial use and appropriateness of antibiotic use in Italy; (ii) estimating effects of IPC variables on HAI prevalence and on the proportion of antibiotics without specific reason.
View Article and Find Full Text PDFAge-specific vulnerability and high prevalence of delirium in pediatric intensive care based on a prospective cohort study.
Sci Rep
December 2024
King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
Delirium, a neuropsychiatric syndrome characterized by acute disruptions in attention and awareness, significantly impacts children in Pediatric Intensive Care Units (PICUs), leading to prolonged hospitalization, increased infection risk, and dependence on mechanical ventilation. Despite growing recognition, its true burden and risk factors in children remain poorly understood. This prospective cohort study investigated the prevalence, characteristics, and potential therapeutic targets for delirium in 890 children admitted to a tertiary PICU between January and December 2022.
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