Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive condition that causes palmoplantar keratoderma and premature exfoliation of primary and secondary dentition. There are several diseases that can mimic PLS, and it is estimated that the disease is far more prevalent than documented but may either be misdiagnosed or not acknowledged. Radiological exams can provide important clues to differentiate between these syndromes and make an accurate diagnosis.
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http://dx.doi.org/10.1177/1938640014560164 | DOI Listing |
Am J Trop Med Hyg
January 2025
Department of Intensive Care, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Epidemiology, ventilator management, and outcomes in patients with acute respiratory distress syndrome (ARDS) because of coronavirus disease 2019 (COVID-19) have been described extensively but have never been compared between countries. We performed an individual patient data analysis of four observational studies to compare epidemiology, ventilator management, and outcomes. We used propensity score weighting to control for confounding factors.
View Article and Find Full Text PDFGenet Test Mol Biomarkers
January 2025
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.
View Article and Find Full Text PDFAm J Respir Crit Care Med
January 2025
AstraZeneca, BioPharmaceuticals R&D, Gaithersburg, Maryland, United States.
Pediatr Infect Dis J
January 2025
From the Department of Pediatrics, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan.
Background: The spread of the BA.5 Omicron variant of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has increased the number of hospitalized children. However, the impact of the spread of new omicron subvariants in children remains poorly described.
View Article and Find Full Text PDFJ Cardiovasc Med (Hagerstown)
February 2025
Division of Cardiology, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende (CS).
Brugada syndrome (BrS) is a genetic condition that increases the risk of life-threatening arrhythmias, which can result in sudden cardiac death (SCD). Implantable loop recorders (ILRs) have become a key tool in managing patients with unexplained syncope, and guidelines advise their use in individuals with recurrent, unexplained syncope or palpitations. However, the role of ILRs in inherited arrhythmic conditions like BrS remains a topic of debate.
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