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Are We Ready for Pseudotumors in Total Ankle Arthroplasty? A Case Report.
J Clin Med
January 2025
Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum University of Bologna, 40123 Bologna, Italy.
Pseudotumors are defined as exuberant non-neoplastic inflammatory masses. This condition can be associated with hip and knee arthroplasty but has not been reported in Total Ankle Arthroplasty (TAA). This paper reports a pseudotumor that formed following TAA, highlighting its clinical presentation, management, and histopathology.
View Article and Find Full Text PDFSenear-Usher Syndrome or Coexistence of SLE with Pemphigus Vulgaris-A Case Report with Literature Review.
J Clin Med
January 2025
Department of Dermatology and Venereology, Medical University of Lodz, pl. Hallera 1, 90-647 Lodz, Poland.
Senear-Usher syndrome, or pemphigus erythematosus (PE), is a rare autoimmune disorder characterized by the coexistence of features from both lupus erythematosus (LE) and pemphigus foliaceus (PF). We describe a 41-year-old patient initially diagnosed with cutaneous and then systemic lupus erythematosus (SLE), who after a few years developed new skin lesions: erythematous and erosive eruptions partially covered by crusts located on the trunk and flaccid blisters on the extremities. Direct immunofluorescence of perilesional skin revealed deposits of IgG in the intercellular space of the epidermis and granular deposits of C3 at the dermo-epidermal junction.
View Article and Find Full Text PDFIdentification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.
View Article and Find Full Text PDFPrenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.
Medicina (Kaunas)
January 2025
Department of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute for Mother and Child Health, 20382 Bucharest, Romania.
Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.
View Article and Find Full Text PDFForeign Bodies in Lower Airway in Children: Brief Review and Clinical Experience.
Children (Basel)
January 2025
Department of Otorhinolaryngology, University Hospital "St. George" Plovdiv, 4000 Plovdiv, Bulgaria.
Background: Foreign body aspiration is a preventable occurrence that carries a high risk of mortality in the pediatric population. Clinically, foreign body aspiration manifests as cough, followed by choking, which might not be given any consideration by the caregivers of the child. An episode of sudden wheezing can also raise the suspicion of a foreign body in the lower respiratory tract.
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