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http://dx.doi.org/10.3390/molecules27165186 | DOI Listing |
Clin Genet
January 2025
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total of 88 patients were recruited and underwent deep phenotyping. A uniform methodology for data re-analysis was implemented as the first step prior to conducting additional genomic testing.
View Article and Find Full Text PDFBiomedicines
November 2024
Neurogenetics Unit, Hospital JM Ramos Mejía, Buenos Aires C1221ADC, Argentina.
Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing-WES; whole-genome sequencing-WGS) and long-read sequencing (LRS). In 2017, we launched a WES program for patients with rare movement disorders of suspected genetic etiology.
View Article and Find Full Text PDFSci Rep
December 2024
Interventional Oncology, Johnson & Johnson Enterprise Innovation, Inc, 10th Floor 255 Main St, 02142, Cambridge, Boston, MA, USA.
The introduction of anti-PD-1/PD-L1 therapies revolutionized treatment for advanced non-small cell lung cancer (NSCLC), yet response rates remain modest, underscoring the need for predictive biomarkers. While a T cell inflamed gene expression profile (GEP) has predicted anti-PD-1 response in various cancers, it failed in a large NSCLC cohort from the Stand Up To Cancer-Mark (SU2C-MARK) Foundation. Re-analysis revealed that while the T cell inflamed GEP alone was not predictive, its performance improved significantly when combined with gene signatures of myeloid cell markers.
View Article and Find Full Text PDFInt J Exp Pathol
February 2025
Department of Ageing, Rheumatology and Regenerative Medicine, Division of Medicine, The Rayne Building, University College, London, UK.
Using a model of UV-killed E. coli driven dermal inflammation in healthy human volunteers, we originally reported that following inflammatory resolution there was infiltration of macrophages, which, through prostanoids including prostaglandin (PG) E, imprints long-term tissue immunity. In addition to the prostanoids, data on levels of Specialised Pro-Resolution Lipid Mediators (SPMs) throughout inflammatory onset, resolution and post-resolution phases of this model were presented, but as illustrations rather than as primary data.
View Article and Find Full Text PDFJ Contemp Brachytherapy
August 2024
Department of Radiation Oncology, Uniklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Purpose: Electromagnetic tracking (EMT) has great potential as a quality assurance tool in interstitial brachytherapy. Since its clinical application in most cases comprises a comparison with brachytherapy plan data, EMT registration and plan data are crucial. Registration uncertainties influence EMT outcomes and further decision-making processes.
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