While advances in the clinical management of various congenital anomalies in pediatric surgery have led to new and exciting therapeutic modalities, our understanding of the mechanisms responsible for these defects lags far behind. In a new era of developmental biology, the prospect of unlocking some of these mysteries has become a real possibility. Advances in gene sequencing has allowed us to create new phenotypes that closely mimic those seen in patients, and has created a setting where we are now better able to understand and develop new therapeutic interventions. Here we discuss the implications of some of the molecular mechanisms underlying various congenital anomalies encountered in pediatric surgery, and how continued research will impact the future of these disease processes.
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http://dx.doi.org/10.1053/j.semperi.2004.03.005 | DOI Listing |
Nat Rev Urol
January 2025
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.
View Article and Find Full Text PDFNat Immunol
January 2025
Department of Cardiology, Renji Hospital, School of Medicine, State Key Laboratory of Systems Medicine for Cancer, Shanghai Cancer Institute, Shanghai Jiao Tong University, Shanghai, China.
A comprehensive understanding of the evolution of the immune landscape in humans across the entire lifespan at single-cell transcriptional and protein levels, during development, maturation and senescence is currently lacking. We recruited a total of 220 healthy volunteers from the Shanghai Pudong Cohort (NCT05206643), spanning 13 age groups from 0 to over 90 years, and profiled their peripheral immune cells through single-cell RNA-sequencing coupled with single T cell and B cell receptor sequencing, high-throughput mass cytometry, bulk RNA-sequencing and flow cytometry validation experiments. We revealed that T cells were the most strongly affected by age and experienced the most intensive rewiring in cell-cell interactions during specific age.
View Article and Find Full Text PDFNat Commun
January 2025
College of Life Sciences, Shaanxi Normal University, 710119, Xi'an, China.
Ferroptosis is a form of iron-dependent programmed cell death, which is distinct from apoptosis, necrosis, and autophagy. Mitochondria play a critical role in initiating and amplifying ferroptosis in cancer cells. Voltage-Dependent Anion Channel 1 (VDAC1) embedded in the mitochondrial outer membrane, exerts roles in regulation of ferroptosis.
View Article and Find Full Text PDFJ Neurosci
January 2025
Department of Developmental Biology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
Neurodegenerative diseases of both the central and peripheral nervous system are characterized by selective neuronal vulnerability, i.e., pathology that affects particular types of neurons.
View Article and Find Full Text PDFGigascience
January 2025
State Key Laboratory of Developmental Biology of Freshwater Fish, Engineering Research Center of Polyploid Fish Reproduction and Breeding of the State Education Ministry, College of Life Sciences, Hunan Normal University, Changsha 410081, China.
Background: Genomic data have unveiled a fascinating aspect of the evolutionary past, showing that the mingling of different species through hybridization has left its mark on the histories of numerous life forms. However, the relationship between hybridization events and the origins of cyprinid fishes remains unclear.
Results: In this study, we generated de novo assembled genomes of 8 cyprinid fishes and conducted phylogenetic analyses on 24 species.
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