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Main genetic entities associated with tooth agenesis.
Clin Oral Investig
December 2024
Postgraduate in Oral Surgery, University of Florence, Florence, Italy.
Background: Tooth agenesis refers to the absence of one or more of the deciduous or permanent teeth. Tooth agenesis results from a series of disrupted reciprocal ectodermal mesenchymal interactions taking place during the early stages of tooth development.
Methods: A narrative literature review was performed to describe the main genetic syndromes associated with tooth agenesis.
Deletion of exon 4 of the in a child with Axenfeld-Rieger syndrome.
Ophthalmic Genet
December 2024
Department of Medical, Shanghai Fujungenetics Biotechnology Co., Ltd., Shanghai, China.
Article Synopsis
- - Axenfeld-Rieger syndrome (ARS) is a genetic disorder with eye and systemic symptoms, showing variability among patients; this study presents two cases (a boy and his mother) with a new genetic variant linked to ARS.
- - The proband, a 3-month-old boy, exhibited several abnormalities including eye development issues, skin and dental problems, and a heart condition, while his mother has been blind since age 12; genetic testing revealed a specific deletion in their DNA.
- - The findings indicate that this deletion leads to ARS phenotype type I, highlighting that certain genetic mutations in the affected gene are common causes of the disorder, thus improving understanding of ARS manifestations.
Surface Plasmons in Two-Dimensional MXenes.
J Phys Chem Lett
November 2024
James Franck Institute, University of Chicago, Chicago, Illinois 60637, United States.
MXenes, a class of layered two-dimensional transition metal carbides and nitrides, exhibit excellent optoelectronic properties and show promise for fields ranging from photonics and communications to energy storage and catalysis. Some members of the MXene family are metallic and exhibit large in-plane conductivity, making them possibly suited for 2D plasmonics. The highly variable chemical structure of MXenes offers a broad chemical space to tune material properties for plasmonic applications, including plasmon-enhanced catalysis, surface-enhanced Raman spectroscopy (SERS), and electromagnetic shielding.
View Article and Find Full Text PDFA Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
Mol Genet Genomic Med
November 2024
Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Background: The main features of Axenfeld-Rieger Syndrome (ARS) are ocular, auditory, neurological, and morphological brain abnormalities. Mutations in forkhead box protein C1 (FOXC1) are among the responsible genes causing ARS, but neuropsychiatric features have rarely been reported. The case of an ARS patient (a 77-year-old man) with delusions of jealousy and impairment of working memory, in addition to the main clinical features, glaucoma and leukoencephalopathy, is presented.
View Article and Find Full Text PDFThe EORTC QLU-C10D distinguished better between cancer patients and the general population than PROPr and EQ-5D-5L in a cross-sectional study.
J Clin Epidemiol
November 2024
Center for Internal Medicine and Dermatology, Department of Psychosomatic Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany; BIH Charité Digital Clinician Scientist Program, BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1 10117, Berlin, Germany.
Objectives: Health state utility (HSU) instruments for calculating quality-adjusted life years, such as the European Organisation for Research and Treatment of Cancer (EORTC) Quality of Life Utility - Core 10 Dimensions (QLU-C10D), derived from the EORTC QLQ-30 questionnaire, the Patient-Reported Outcome Measurement Information System (PROMIS) preference score (PROPr), and the EuroQoL-5-Dimensions-5-Levels (EQ-5D-5L), yield different HSU values due to different modeling and different underlying descriptive scales. For example the QLU-C10D includes cancer-relevant dimensions such as nausea. This study aimed to investigate how these differences in descriptive scales contribute to differences in HSU scores by comparing scores of cancer patients receiving chemotherapy to those of the general population.
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