Background: Acne is a common condition. Sometimes acne or acne-like features are a part of autoinflammatory diseases such as PAPA spectrum disorders. Our objective wasto determine whether acne in PAPA spectrum disorders has specific phenotypic traits.
Summary: This is aliterature review on reported cases of patients with PAPA, PAMI, PASH, PAPASH, PsAPASH, PAC or PASS syndrome. Acne was classified into four categories: moderate, severe, nodulocystic, acne fulminans.One hundred patients were included. Age of onset of acne and topography were the same as in acne vulgaris. Acne's phenotype was at least severe (including acne fulminans, nodulocystic and severe) in 83% of cases. Genetic mutations or variants with potential pathological significance were reported in 49 patients. The addition of isotretinoin to biotherapies was required to control acne in several patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000509874 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prevalence, Characterization, and Proteomic Relatedness Among β-Lactam-Resistant Bacteria Throughout the Poultry Production Chain in Greece.
Foods
January 2025
Laboratory of Animal Food Products Hygiene and Veterinary Public Health, School of Veterinary Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Extended-spectrum-β-lactamase (ESBL) and carbapenemase-producing , and spp. are associated with hospital-acquired infections and are commonly isolated across the poultry food production chain. Comprehensive data regarding the prevalence, spatiotemporal variations, and characterization of β-lactam-resistant bacteria in poultry farms and slaughterhouses is scarce.
View Article and Find Full Text PDFEssential Oils as Antimicrobials against : Experimental and Literature Data to Definite Predictive Quantitative Composition-Activity Relationship Models Using Machine Learning Algorithms.
J Chem Inf Model
January 2025
Rome Center for Molecular Design, Department of Drug Chemistry and Technology, Sapienza University of Rome, Piazzale Aldo Moro 5, Rome 00185, Italy.
Essential oils (EOs) exhibit a broad spectrum of biological activities; however, their clinical application is hindered by challenges, such as variability in chemical composition and chemical/physical instability. A critical limitation is the lack of chemical consistency across EO samples, which impedes standardization. Despite this, evidence suggests that EOs with differing chemical profiles often display similar (micro)biological activities, raising the possibility of standardizing EOs based on their biological effects rather than their chemical composition.
View Article and Find Full Text PDFAMPylation is a post-translational modification involving the transfer of adenosine monophosphate (AMP) from adenosine triphosphate (ATP) to target proteins, serving as a critical regulatory mechanism in cellular functions. This study aimed to expand the phenotypic spectrum associated with mutations in the FICD gene, which encodes an adenyltransferase enzyme involved in both AMPylation and deAMPylation. A clinical evaluation was conducted on a patient presenting with a complex clinical profile.
View Article and Find Full Text PDFExpanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
Orphanet J Rare Dis
December 2024
Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain.
Results: through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a truncated protein in Pt.
Effect of sacubitril/valsartan in heart failure with preserved ejection fraction across the age spectrum in PARAGON-HF.
Eur J Heart Fail
December 2024
Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Aims: To evaluate clinical outcomes, echocardiographic features, and the efficacy and safety of sacubitril/valsartan compared to valsartan across age groups in the PARAGON-HF trial.
Methods And Results: A total of 4796 participants ≥50 years of age with chronic heart failure (HF) and left ventricular ejection fraction (LVEF) ≥45% were divided into three age groups: <65 years (n = 825), 65-74 years (n = 1772), and ≥75 years (n = 2199). Echocardiograms of 1097 patients were analysed in a standardized fashion at a core imaging laboratory.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!