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A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.
J Clin Lipidol
December 2024
Internal Medicine Department, Coimbra's Healthcare Integrated Delivery System, Praceta Professor Mota Pinto, 3004-561, Coimbra, Portugal.
Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.
View Article and Find Full Text PDFExercise capacity and the psychosocial effect in preterm born infants - Should we do more?
Paediatr Respir Rev
January 2025
Department of Respiratory Medicine, The Children's Hospital at Westmead, Westmead, Sydney, New South Wales 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Camperdown, Sydney, New South Wales 2006, Australia.
Physical activity is crucial for children's physical, cognitive, and social development, reducing the risk of non-communicable diseases and improving overall well-being. A major legacy of extremely preterm delivery is respiratory limitation with reduced lung function and decreased exercise capacity which can be further exacerbated by inactivity and deconditioning. Strategies to increase incidental physical activities in early childhood and participation in sport and more formal exercise programmes in middle childhood have the potential to optimize cardiopulmonary function, improve quality of life, and foster social interactions in childhood and beyond, thereby providing benefits that extend far beyond the physical domain.
View Article and Find Full Text PDFRetrospective Analysis of the Prevalence and Risk Factors of Retinopathy of Prematurity in a Single-Center Cohort in Romania and Comparison with National and European Data.
Medicina (Kaunas)
January 2025
Department of Neonatology, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540142 Târgu Mures, Romania.
This study investigated and compared with European literature data the incidence, severity, and perinatal risk factors of retinopathy of prematurity (ROP) in preterm infants admitted to the Premature Department of Mureş County Clinical Hospital over a two-year period (January 2022-December 2023). : ROP screening was performed in 96 infants (76.8%) according to professional guidelines.
View Article and Find Full Text PDFA Survey on the Organization and Operation of Level II/III Neonatal Intensive Care Units in Greece: A Comparison Between 2004 and 2022.
Children (Basel)
January 2025
Department of Pediatrics, Patras Medical School, University of Patras, University Hospital of Patras, 26504 Patras, Greece.
Background/objectives: Limited data exist on the organization and operation of Level II/III Neonatal Intensive Care Units (NICUs) in Greece; this retrospective cross-sectional survey explored their structure and functioning in 2004 and 2022.
Methods: A structured questionnaire was utilized, along with demographic and perinatal data obtained from the Hellenic Statistical Authority.
Results: Between 2004 and 2022, live births decreased by 28%, while the prematurity rate rose from 6.
Body Composition in Preterm Infants: Current Insights and Emerging Perspectives.
Children (Basel)
January 2025
Division of Neonatology, Department of Pediatrics, Emory University and Children's Healthcare of Atlanta, Atlanta, GA 30322, USA.
In recent years, significant advancements in respiratory and nutritional care have markedly improved the survival rates of preterm infants and enhanced long-term health outcomes. Despite these improvements, emerging research highlights the lasting impacts of early growth patterns on an individual's health trajectory. Adults born prematurely face a higher incidence of health issues related to their early birth.
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