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Cancer Epidemiol
January 2025
Division of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX USA.
Background: Birth defects are associated with childhood cancer, but little is known regarding pediatric carcinomas, a group of especially rare tumors.
Methods: We used Cox proportional hazards regression to estimate the hazard ratio (HR) and 95 % confidence interval (CI) for any carcinoma, as well as thyroid, hepatocellular, and renal carcinoma specifically, up to 18 years of age among children with major, non-syndromic anomalies or chromosomal/genetic syndromes, relative to unaffected children.
Results: Our registry-linkage study included nine states and 21,933,476 children between 1990 and 2018: 641,827 with non-syndromic anomalies, and 49,619 with syndromes.
Front Med (Lausanne)
January 2025
Department of Respiratory Medicine, Reference Centre for Rare Pulmonary Diseases, APHP, Hôpital Avicenne, INSERM U 1272, Université Sorbonne Paris-Nord, Bobigny, France.
LAM is a rare multi-cystic lung disease for which treatment with sirolimus is indicated in cases of moderate or severe lung disease or declining lung function. The aim of this study was to describe patients treated with sirolimus for LAM and their outcomes. This retrospective observational study was based on data from the French national health insurance data system (SNDS).
View Article and Find Full Text PDFTrends Mol Med
January 2025
University of Coimbra, Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Coimbra, Portugal; University of Coimbra, Institute for Nuclear Sciences Applied to Health (ICNAS), Coimbra, Portugal; University of Coimbra, Institute of Physiology, Faculty of Medicine, Coimbra, Portugal. Electronic address:
Biological sex strongly impacts tuberous sclerosis complex (TSC) symptoms like epilepsy and autism. However, the mechanisms driving this influence remain largely unknown. Here, we discuss how sex-specific changes in brain synapses and neural networks may drive these differences, offering insights that could be crucial for developing targeted therapies for TSC.
View Article and Find Full Text PDFBackground: Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mTOR inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas, there are, though, only few cases described.
View Article and Find Full Text PDFAnn Diagn Pathol
January 2025
Department of Pathology, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, China. Electronic address:
Subependymal giant cell astrocytomas (SEGAs) are neoplasms that exhibit slow growth patterns and are closely associated with tuberous sclerosis complex (TSC). Recent research indicates that TFE3/TFEB-targeted biomarker glycoprotein nonmetastatic B (GPNMB) is upregulated inTSC1/2-related tumours. In this study, we performed molecular analysis on SEGAs and analyzed GPNMB expression in 6 SEGAs, 10 PXAs, 9 GBMs, 8 eGBMs, 8 diffuse astrocytomas, 8 oligodendrogliomas and 7 glioneuronal tumours through immunohistochemistry, 100 % (6/6) of the SEGA cases exhibited positive GPNMB expression, whereas it was negative in all other CNS tumours.
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