The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was mentioned in 27 cases only; all other patients had incomplete forms. The combination of two out of 3 main features is enough for the diagnosis of this syndrome. The most common trait of the "EEC" syndrome is ectrodactyly (73/77), clefts of lip or palate were observed in 53 patients out of 77, the ectodermal dysplasia was mentioned in 44 cases. There is an increase of mutation frequency in older parents.
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J Exp Clin Cancer Res
January 2025
Department of Biology and Biotechnologies "Charles Darwin", Sapienza University, 00185, Rome, Italy.
Background: Metabolic syndrome represents a pancreatic ductal adenocarcinoma (PDAC) risk factor. Metabolic alterations favor PDAC onset, which occurs early upon dysmetabolism. Pancreatic neoplastic lesions evolve within a dense desmoplastic stroma, consisting in abundant extracellular matrix settled by cancer associated fibroblasts (CAFs).
View Article and Find Full Text PDFSci Rep
January 2025
Science For Life Laboratory, Department of Medicinal Chemistry, Uppsala University, Uppsala, Sweden.
A distinctive feature of both type 1 and type 2 diabetes is the waning of insulin-secreting beta cells in the pancreas. New methods for direct and specific targeting of the beta cells could provide platforms for delivery of pharmaceutical reagents. Imaging techniques such as Positron Emission Tomography (PET) rely on the efficient and specific delivery of imaging reagents, and could greatly improve our understanding of diabetes etiology as well as providing biomarkers for viable beta-cell mass in tissue, in both pancreas and in islet grafts.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Front Immunol
October 2024
Division of Immunology, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, United States.
BMC Oral Health
August 2024
Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
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