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http://dx.doi.org/10.1111/ddg.14914 | DOI Listing |
Med Phys
December 2024
The University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences, Houston, Texas, USA.
Background: Automation in radiotherapy presents a promising solution to the increasing cancer burden and workforce shortages. However, existing automated methods for breast radiotherapy lack a comprehensive, end-to-end solution that meets varying standards of care.
Purpose: This study aims to develop a complete portfolio of automated radiotherapy treatment planning for intact breasts, tailored to individual patient factors, clinical approaches, and available resources.
J Clin Immunol
November 2024
Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstraße 4 , Munich, European Union (EU), D-80337 , Germany.
Purpose: Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phenotypic triad of trichorrhexis invaginate (bamboo hair), congenital ichthyosiform erythroderma, and multiple atopic manifestations. Treatment options especially in infants are scarce and generally not licensed.
Methods: Case report of a 9-week-old infant with NS treated with dupilumab off-label.
Dermatology
November 2024
Department of Dermatology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Introduction: Netherton syndrome (NS; OMIM#256500) is a rare and severe disorder of epidermal maturation and keratinization caused by pathogenic variants in the serine protease inhibitor Kazal type 5 (SPINK5), leading to severe skin barrier impairment. Although effective treatment is crucial for NS patients, there is a lack of knowledge on what the best treatment options are for these patients. Large heterogeneity in reported outcomes and measurement instruments hinders accurate comparison of treatment results across studies and the development of a treatment guideline.
View Article and Find Full Text PDFJ Clin Immunol
October 2024
Department of Immunology, Erasmus University Medical Center, Dr. Molewaterplein 40, Rotterdam, 3015 GD, The Netherlands.
Background: Netherton syndrome (NS) is a rare, severe genetic skin disorder, currently classified as an inborn error of immunity (IEI) due to previously reported immune dysregulation. We recently reported the results of an immunological evaluation showing no evidence for a relevant B- and/or T-cell mediated immunodeficiency, but immune responses after vaccination were not evaluated in that study. Therefore, we evaluated immune responses to three vaccine platforms in adult NS patients to further investigate the presence of a clinically relevant B- and/or T-cell immunodeficiency.
View Article and Find Full Text PDFBr J Dermatol
January 2025
Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Background: Congenital ichthyoses comprise a heterogeneous group of genetic diseases that require lifelong treatment and have a major impact on patients' quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in congenital ichthyoses has raised the possibility of repurposing currently available biologics.
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