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Inborn errors of immunity (primary immunodeficiencies).
Allergy Asthma Clin Immunol
January 2025
Division of Allergy and Clinical Immunology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g.
View Article and Find Full Text PDFEffective BCDNet-based breast cancer classification model using hybrid deep learning with VGG16-based optimal feature extraction.
BMC Med Imaging
January 2025
Department of Information Technology, Manipal Institute of Technology Bengaluru, Manipal Academy of Higher Education, Manipal, Karnataka, 576104, India.
Problem: Breast cancer is a leading cause of death among women, and early detection is crucial for improving survival rates. The manual breast cancer diagnosis utilizes more time and is subjective. Also, the previous CAD models mostly depend on manmade visual details that are complex to generalize across ultrasound images utilizing distinct techniques.
View Article and Find Full Text PDFDiagnostic value of the MZXBTCH scoring system for acute complex appendicitis.
Sci Rep
January 2025
Department of Gastrointestinal Surgery, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, No. 168 Litang Road, Changping District, Beijing, 102218, China.
The objective of this study was to develop a novel scoring model, assess its diagnostic value for complex appendicitis, and compare it with existing scoring systems. A total of 1,241 patients with acute appendicitis were included, comprising 868 patients in the modeling group (mean age, 35.6 ± 14.
View Article and Find Full Text PDFComplex rearrangements fuel ER and HER2 breast tumours.
Nature
January 2025
Stanford Cancer Institute, School of Medicine, Stanford University, Stanford, CA, USA.
Breast cancer is a highly heterogeneous disease whose prognosis and treatment as defined by the expression of three receptors-oestrogen receptor (ER), progesterone receptor and human epidermal growth factor receptor 2 (HER2; encoded by ERBB2)-is insufficient to capture the full spectrum of clinical outcomes and therapeutic vulnerabilities. Previously, we demonstrated that transcriptional and genomic profiles define eleven integrative subtypes with distinct clinical outcomes, including four ER subtypes with increased risk of relapse decades after diagnosis. Here, to determine whether these subtypes reflect distinct evolutionary histories, interactions with the immune system and pathway dependencies, we established a meta-cohort of 1,828 breast tumours spanning pre-invasive, primary invasive and metastatic disease with whole-genome and transcriptome sequencing.
View Article and Find Full Text PDFPredicting cell morphological responses to perturbations using generative modeling.
Nat Commun
January 2025
Department of Computational Health, Institute of Computational Biology, Helmholtz Zentrum München, Munich, Germany.
Advancements in high-throughput screenings enable the exploration of rich phenotypic readouts through high-content microscopy, expediting the development of phenotype-based drug discovery. However, analyzing large and complex high-content imaging screenings remains challenging due to incomplete sampling of perturbations and the presence of technical variations between experiments. To tackle these shortcomings, we present IMage Perturbation Autoencoder (IMPA), a generative style-transfer model predicting morphological changes of perturbations across genetic and chemical interventions.
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